{"id":3858,"date":"2021-01-05T20:01:22","date_gmt":"2021-01-06T01:01:22","guid":{"rendered":"https:\/\/nebula.org\/blog\/clinvar-%e3%83%81%e3%83%a5%e3%83%bc%e3%83%88%e3%83%aa%e3%82%a2%e3%83%ab\/"},"modified":"2021-02-20T20:23:16","modified_gmt":"2021-02-21T01:23:16","slug":"clinvar-%e3%83%81%e3%83%a5%e3%83%bc%e3%83%88%e3%83%aa%e3%82%a2%e3%83%ab","status":"publish","type":"post","link":"https:\/\/nebula.org\/blog\/ja\/clinvar-%e3%83%81%e3%83%a5%e3%83%bc%e3%83%88%e3%83%aa%e3%82%a2%e3%83%ab\/","title":{"rendered":"ClinVar\u306e\u4f7f\u7528\u65b9\u6cd5-\u521d\u5fc3\u8005\u5411\u3051\u306e\u30c1\u30e5\u30fc\u30c8\u30ea\u30a2\u30eb"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>ClinVar\u3068\u306f\u4f55\u3067\u3059\u304b\uff1f<\/strong><\/h2>\n\n<p>\u591a\u304f\u306e\u4eba\u306b\u3068\u3063\u3066\u3001\u30b2\u30ce\u30e0\u306e\u914d\u5217\u3092\u6c7a\u5b9a\u3059\u308b\u3053\u3068\u306f\u3001\u523a\u6fc0\u7684\u306a\u65c5\u306e\u59cb\u307e\u308a\u3067\u3059\u3002 \u3057\u304b\u3057\u3001\u591a\u304f\u306e\u5834\u5408\u3001\u4eba\u3005\u306f\u81ea\u5206\u306eDNA\u30c7\u30fc\u30bf\u306e\u63a2\u7d22\u3092\u3069\u3053\u304b\u3089\u59cb\u3081\u308c\u3070\u3088\u3044\u306e\u304b\u308f\u304b\u3089\u306a\u3044\u307e\u307e\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002 \u907a\u4f1d\u5b66\u304c\u5065\u5eb7\u306b\u3069\u306e\u3088\u3046\u306b\u5f71\u97ff\u3059\u308b\u304b\u3092\u5b66\u3076\u305f\u3081\u306b\u3001ClinVar\u3068\u547c\u3070\u308c\u308b\u30c4\u30fc\u30eb\u306f\u975e\u5e38\u306b\u4fbf\u5229\u3067\u3059\u3002 \u3057\u304b\u3057\u3001\u3053\u306e\u30c4\u30fc\u30eb\u306f\u3069\u306e\u7a0b\u5ea6\u6b63\u78ba\u306b\u6a5f\u80fd\u3057\u307e\u3059\u304b\uff1f \u3053\u306e\u30c1\u30e5\u30fc\u30c8\u30ea\u30a2\u30eb\u306f\u3042\u306a\u305f\u306b\u6559\u3048\u307e\u3059\uff01<\/p>\n\n<figure class=\"wp-block-table is-style-regular\"><table class=\"has-subtle-pale-pink-background-color has-background\"><tbody><tr><td><strong><a href=\"https:\/\/nebula.org\/whole-genome-sequencing\/\">ClinVar\u306e\u3088\u3046\u306a\u30c4\u30fc\u30eb\u306e\u307b\u3068\u3093\u3069\u3092\u5165\u624b\u3059\u308b\u305f\u3081\u306b\u3001DNA\u5185\u306e\u3059\u3079\u3066\u306e\u907a\u4f1d\u7684\u5909\u7570\u3092\u767a\u898b\u3059\u308b\u3053\u3068\u306b\u8208\u5473\u304c\u3042\u308a\u307e\u3059\u304b\uff1f Nebula Genomics\u306f\u3001\u5168\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u3092\u305f\u3063\u305f299\u30c9\u30eb\u3067\u63d0\u4f9b\u3057\u3066\u3044\u307e\u3059\u3002 \u8a73\u7d30\u306b\u3064\u3044\u3066\u306f\u3001\u3053\u3053\u3092\u30af\u30ea\u30c3\u30af\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/a><\/strong><\/td><\/tr><\/tbody><\/table><\/figure>\n\n<h2 class=\"wp-block-heading\">99.9\u30d1\u30fc\u30bb\u30f3\u30c8<\/h2>\n\n<p>\u30d2\u30c8\u30b2\u30ce\u30e0\u306f\u300123\u5bfe\u306e\u67d3\u8272\u4f53\u306b\u307e\u305f\u304c\u308b\u7d0430\u5104\u6587\u5b57\u3067\u69cb\u6210\u3055\u308c\u3066\u3044\u307e\u3059\u3002 \u4e00\u7dd2\u306b\u3001\u3053\u308c\u3089\u306e\u6587\u5b57\uff08\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u3068\u3057\u3066\u3082\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\uff09\u306f\u3001\u79c1\u305f\u3061\u306e\u7279\u6027\u3092\u6c7a\u5b9a\u3059\u308b\u305f\u3081\u306e\u53d6\u6271\u8aac\u660e\u66f8\u3068\u3057\u3066\u6a5f\u80fd\u3057\u307e\u3059\u3002 \u500b\u4eba\u306e\u9aea\u306e\u8272\u304b\u3089\u5fc3\u81d3\u75c5\u306e\u30ea\u30b9\u30af\u307e\u3067\u3001\u30b2\u30ce\u30e0\u306b\u306f\u5404\u4eba\u3092\u30e6\u30cb\u30fc\u30af\u306b\u3059\u308b\u30ec\u30b7\u30d4\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002 <\/p>\n\n<p>\u30e9\u30f3\u30c0\u30e0\u306b2\u4eba\u3092\u9078\u3073\u307e\u3059\u304c\u3001\u985e\u4f3c\u70b9\u3088\u308a\u3082\u591a\u304f\u306e\u9055\u3044\u304c\u3042\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002 \u80cc\u304c\u9ad8\u304f\u3001\u773c\u93e1\u304c\u5fc5\u8981\u3067\u3001\u4e73\u304c\u3093\u306e\u5bb6\u65cf\u6b74\u304c\u3042\u308a\u3001\u30b3\u30ea\u30a2\u30f3\u30c0\u30fc\u306e\u5473\u304c\u5acc\u3044\u306a\u4eba\u3082\u3044\u307e\u3059\u3002 \u3082\u30461\u3064\u306f\u8d64\u3044\u9aea\u3067\u3001\u4e73\u7cd6\u4e0d\u8010\u75c7\u3067\u3001\u5e38\u306b\u307e\u3063\u3059\u3050\u306a\u5b66\u751f\u3067\u3057\u305f\u3002 <\/p>\n\n<p>\u3053\u308c\u3089\u306e2\u4eba\u306f\u4f3c\u3066\u3044\u306a\u3044\u3088\u3046\u306b\u898b\u3048\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u305d\u308c\u3067\u3082\u30b2\u30ce\u30e0\u5185\u306e\u540c\u3058\u6587\u5b57\u306e99.9\uff05\u3092\u5171\u6709\u3057\u3066\u3044\u307e\u3059\u3002 \u898b\u305f\u76ee\u304b\u3089\u75c5\u6c17\u306e\u30ea\u30b9\u30af\u307e\u3067\u30012\u4eba\u306e\u30e9\u30f3\u30c0\u30e0\u306a\u500b\u4eba\u9593\u306e\u3059\u3079\u3066\u306e\u9055\u3044\u306f\u3001\u30b2\u30ce\u30e0\u5185\u306e\u6587\u5b57\u306e\u308f\u305a\u304b0.1\uff05\uff08\u307e\u305f\u306f300\u4e07\uff09\u306e\u9055\u3044\u306b\u8d77\u56e0\u3057\u307e\u3059\uff01<\/p>\n\n<h2 class=\"wp-block-heading\">0.1\u30d1\u30fc\u30bb\u30f3\u30c8<\/h2>\n\n<p>\u500b\u4eba\u9593\u3067\u7570\u306a\u308b\u53ef\u80fd\u6027\u306e\u3042\u308b\u30b2\u30ce\u30e0\u306e\u6587\u5b57\u306f\u3001\u4e00\u5869\u57fa\u591a\u578b\u3001\u307e\u305f\u306fSNP\uff08\u300c\u30b9\u30cb\u30c3\u30d7\u300d\u3068\u767a\u97f3\uff09\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002 \u305f\u3068\u3048\u3070\u3001SNP\u306f\u3001\u5927\u591a\u6570\u306e\u500b\u4eba\u304c\u30b2\u30ce\u30e0\u306e\u7279\u5b9a\u306e\u5834\u6240\u306b\u6587\u5b57\u300cC\u300d\u3092\u6301\u3061\u3001\u5c11\u6570\u6d3e\u304c\u4ee3\u308f\u308a\u306b\u300cT\u300d\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u306b\u5b58\u5728\u3057\u307e\u3059\u3002 \u3053\u306eSNP\u306b\u306f\u3001C\u3068T\u306e2\u3064\u306e\u53ef\u80fd\u306a\u30d0\u30ea\u30a2\u30f3\u30c8\u307e\u305f\u306f\u300c\u5bfe\u7acb\u907a\u4f1d\u5b50\u300d\u304c\u3042\u308b\u3068\u8a00\u308f\u308c\u307e\u3059\u3002<\/p>\n\n<p>\u79d1\u5b66\u8005\u306f\u3001\u30b2\u30ce\u30e0\u5168\u4f53\u306b\u6700\u59271\u5104\u306eSNP\u304c\u5b58\u5728\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3068\u63a8\u5b9a\u3057\u3066\u3044\u307e\u3059\u3002 \u3053\u308c\u3089\u306eSNP\u306e\u591a\u304f\u306f\u3001\u907a\u4f1d\u5b50\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308b\u305f\u3081\u306e\u6307\u793a\u3068\u3057\u3066\u6a5f\u80fd\u3059\u308bDNA\u914d\u5217\u3001\u7d30\u80de\u5185\u5916\u3067\u3055\u307e\u3056\u307e\u306a\u30bf\u30b9\u30af\u3092\u5b9f\u884c\u3059\u308b\u5206\u5b50\u6a5f\u68b0\u5185\u3067\u767a\u751f\u3057\u307e\u3059\u3002 \u3057\u304b\u3057\u3001\u3055\u3089\u306b\u591a\u304f\u306eSNP\u304c\u3001\u3053\u308c\u3089\u306e\u5730\u57df\u306e\u5916\u3001\u3044\u308f\u3086\u308b<a href=\"https:\/\/www.scientificamerican.com\/article\/what-is-junk-dna-and-what\/\">\u300c\u30b8\u30e3\u30f3\u30afDNA\u300d<\/a> \u3002 \u305d\u306e\u540d\u524d\u306b\u3082\u304b\u304b\u308f\u3089\u305a\u3001\u3053\u306eDNA\u306f\u79c1\u305f\u3061\u306e\u30b2\u30ce\u30e0\u306e\u60c5\u5831\u306e\u7d0499\uff05\u3092\u69cb\u6210\u3057\u3066\u304a\u308a\u3001\u79d1\u5b66\u8005\u306f\u79c1\u305f\u3061\u306e\u5065\u5eb7\u306b\u3068\u3063\u3066\u306e\u305d\u306e\u91cd\u8981\u6027\u306b\u3064\u3044\u3066\u307e\u3059\u307e\u3059\u767a\u898b\u3057\u7d9a\u3051\u3066\u3044\u307e\u3059\u3002<\/p>\n\n<p>\u3068\u306b\u304b\u304f\u3001SNP\u3092\u7279\u5b9a\u3059\u308b\u3053\u3068\u306f\u3001\u500b\u4eba\u306e\u30b2\u30ce\u30e0\u30c7\u30fc\u30bf\u3092\u7406\u89e3\u3059\u308b\u4e0a\u3067\u91cd\u8981\u306a\u30b9\u30c6\u30c3\u30d7\u3067\u3059\u3002 \u4e00\u90e8\u306eSNP\u306f\u3001\u7279\u5b9a\u306e\u75be\u60a3\u306b\u5bfe\u3059\u308b\u500b\u4eba\u306e\u611f\u53d7\u6027\u306b\u5f37\u529b\u306a\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002 \u305f\u3068\u3048\u3070\u3001\u30a2\u30eb\u30c4\u30cf\u30a4\u30de\u30fc\u75c5\u306b\u3064\u3044\u3066\u8003\u3048\u3066\u307f\u307e\u3057\u3087\u3046\u3002 \u306e\u7279\u5b9a\u306eSNP<a href=\"https:\/\/nebula.org\/blog\/ja\/%e3%82%a2%e3%83%9d%e3%83%aa%e3%83%9d%e3%82%bf%e3%83%b3%e3%83%91%e3%82%af%e8%b3%aa-e-apoe\/\"> APOE<\/a>\u907a\u4f1d\u5b50\u306f\u3001\u30a2\u30eb\u30c4\u30cf\u30a4\u30de\u30fc\u75c5\u3092\u767a\u75c7\u3059\u308b\u30ea\u30b9\u30af\u3092\u9ad8\u3081\u307e\u3059<a href=\"https:\/\/nebula.org\/blog\/ja\/%e3%82%a2%e3%83%9d%e3%83%aa%e3%83%9d%e3%82%bf%e3%83%b3%e3%83%91%e3%82%af%e8%b3%aa-e-apoe\/\">20\u500d\u4ee5\u4e0a<\/a>\uff01 <\/p>\n\n<p>\u907a\u4f1d\u5b50\u691c\u67fb\u6280\u8853\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u30d2\u30c8\u30b2\u30ce\u30e0\u306e\u914d\u5217\u6c7a\u5b9a\u306e\u30b3\u30b9\u30c8\u304c\u524a\u6e1b\u3055\u308c\u3001\u307e\u3059\u307e\u3059\u591a\u304f\u306e\u4eba\u3005\u304cDNA\u3092\u901a\u3058\u3066\u81ea\u5206\u81ea\u8eab\u306b\u3064\u3044\u3066\u5b66\u3076\u305f\u3081\u306b\u98db\u8e8d\u3057\u3066\u3044\u307e\u3059\u3002 \u4e00\u90e8\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u4f1a\u793e\u306f\u3001\u30e6\u30fc\u30b6\u30fc\u304c\u81ea\u5206\u306e\u30c7\u30fc\u30bf\u3092\u81ea\u5206\u3067\u63a2\u7d22\u3067\u304d\u308b\u3088\u3046\u306b\u3001\u751f\u306eDNA\u30d5\u30a1\u30a4\u30eb\u3078\u306e\u30a2\u30af\u30bb\u30b9\u3092\u8a31\u53ef\u3057\u3066\u3044\u307e\u3059\u3002 \u3053\u308c\u306f\u30e6\u30fc\u30b6\u30fc\u306b\u529b\u3092\u4e0e\u3048\u307e\u3059\u304c\u3001\u540c\u6642\u306b\u975e\u5e38\u306b\u56f0\u96e3\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002 \u307b\u3068\u3093\u3069\u306e\u4eba\u306f\u3001\u4eba\u9593\u306e\u907a\u4f1d\u5b66\u3084\u3055\u307e\u3056\u307e\u306a\u30c7\u30fc\u30bf\u5206\u6790\u30c4\u30fc\u30eb\u306b\u3042\u307e\u308a\u7cbe\u901a\u3057\u3066\u3044\u307e\u305b\u3093\u3002 \u7279\u306b\u3001\u4f55\u767e\u4e07\u3082\u306eSNP\u3092\u8003\u3048\u308b\u3068\u3001\u591a\u304f\u306e\u30e6\u30fc\u30b6\u30fc\u306f\u5f53\u7136\u306e\u3053\u3068\u306a\u304c\u3089\u3001\u305d\u308c\u3089\u304c\u4f55\u3092\u610f\u5473\u3059\u308b\u306e\u304b\u3092\u5b66\u3076\u65b9\u6cd5\u3092\u77e5\u308a\u307e\u305b\u3093\u3002 <\/p>\n\n<p>ClinVar\u306e\u3088\u3046\u306a\u30c4\u30fc\u30eb\u306e\u307b\u3068\u3093\u3069\u3092\u5165\u624b\u3059\u308b\u305f\u3081\u306b\u3001DNA\u5185\u306e\u3059\u3079\u3066\u306e\u907a\u4f1d\u7684\u5909\u7570\u3092\u767a\u898b\u3059\u308b\u3053\u3068\u306b\u8208\u5473\u304c\u3042\u308a\u307e\u3059\u304b\uff1f Nebula Genomics\u306f\u3001\u5168\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u3092\u305f\u3063\u305f299\u30c9\u30eb\u3067\u63d0\u4f9b\u3057\u3066\u3044\u307e\u3059\u3002 \u8a73\u7d30\u306b\u3064\u3044\u3066\u306f\u3001\u3053\u3053\u3092\u30af\u30ea\u30c3\u30af\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n<h2 class=\"wp-block-heading\">\u4f7f\u3044\u65b9<strong>ClinVar<\/strong><\/h2>\n\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/\">\u3042\u306a\u305f\u306eSNP\u304c\u5065\u5eb7\u306b\u4f55\u3092\u610f\u5473\u3059\u308b\u304b\u306b\u3064\u3044\u3066\u3082\u3063\u3068\u5b66\u3076\u305f\u3081\u306e\u6700\u3082\u5f79\u7acb\u3064\u30c4\u30fc\u30eb\u306e1\u3064\u306fClinVar\u3067\u3059\u3002<\/a> \u3053\u308c\u306f\u3001\u907a\u4f1d\u7684\u5909\u7570\u3068\u5065\u5eb7\u72b6\u614b\u3078\u306e\u5f71\u97ff\u3068\u306e\u95a2\u4fc2\u3092\u30ab\u30bf\u30ed\u30b0\u5316\u3059\u308b\u3053\u3068\u3092\u76ee\u7684\u3068\u3057\u305f\u3001\u81ea\u7531\u306b\u30a2\u30af\u30bb\u30b9\u3067\u304d\u308b\u516c\u958b\u30a2\u30fc\u30ab\u30a4\u30d6\u3067\u3059\u3002 <\/p>\n\n<p>ClinVar\u306f\u3001\u7c73\u56fd\u306e\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240\u306b\u3088\u3063\u3066\u904b\u55b6\u3055\u308c\u3066\u3044\u307e\u3059\u3002 \u7814\u7a76\u8005\u3084\u533b\u7642\u5c02\u9580\u5bb6\u304c\u81e8\u5e8a\u7684\u306b\u95a2\u9023\u3059\u308bSNP\u306b\u95a2\u3059\u308b\u60c5\u5831\u3092\u5bc4\u8a17\u3059\u308b\u305f\u3081\u306e\u4e2d\u592e\u306e\u516c\u958b\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3068\u3057\u3066\u6a5f\u80fd\u3057\u307e\u3059\u3002 \u305f\u3068\u3048\u3070\u3001\u907a\u4f1d\u5b50\u5909\u7570\u3092\u7279\u5b9a\u306e\u75be\u60a3\u306b\u95a2\u9023\u4ed8\u3051\u308b\u65b0\u3057\u3044\u79d1\u5b66\u7684\u7814\u7a76\u304c\u767a\u8868\u3055\u308c\u305f\u5834\u5408\u3001\u3053\u306e\u60c5\u5831\u3092ClinVar\u306b\u9001\u4fe1\u3067\u304d\u307e\u3059\u3002 <\/p>\n\n<p>ClinVar\u306f\u5f37\u529b\u3067\u3059\u304c\u3001\u6271\u3044\u306b\u304f\u304f\u3001\u30ca\u30d3\u30b2\u30fc\u30c8\u3059\u308b\u306e\u304c\u96e3\u3057\u3044\u3088\u3046\u306b\u898b\u3048\u308b\u3053\u3068\u304c\u3088\u304f\u3042\u308a\u307e\u3059\u3002 \u30b5\u30a4\u30c8\u3092\u52b9\u679c\u7684\u306b\u691c\u7d22\u3059\u308b\u65b9\u6cd5\u3092\u5b66\u3076\u3053\u3068\u3067\u3001\u30b2\u30ce\u30e0\u30c7\u30fc\u30bf\u304b\u3089\u5927\u91cf\u306e\u8ffd\u52a0\u60c5\u5831\u3092\u5f15\u304d\u51fa\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n<p>\u57fa\u672c\u7684\u306b\u30013\u3064\u306e\u7570\u306a\u308b\u60c5\u5831\u306e\u3044\u305a\u308c\u304b\u3092\u4f7f\u7528\u3057\u3066ClinVar\u3092\u691c\u7d22\u3067\u304d\u307e\u3059\u3002 \u3053\u308c\u3089\u306f\uff1a<\/p>\n\n<ul class=\"wp-block-list\"><li>SNP ID<\/li><li>\u907a\u4f1d\u5b50<\/li><li>\u75c5\u6c17\/\u72b6\u614b<\/li><\/ul>\n\n<h3 class=\"wp-block-heading\"><strong>\u691c\u7d22\u4e2d<\/strong>ClinVar<strong> SNP\u306b\u3088\u308b<\/strong><\/h3>\n\n<p>\u307b\u3068\u3093\u3069\u306eSNP\u306b\u306f\u4e00\u610f\u306eID\u304c\u5272\u308a\u5f53\u3066\u3089\u308c\u307e\u3059\u3002\u901a\u5e38\u3001\u6587\u5b57\u300crs\u300d\u3067\u59cb\u307e\u308a\u3001\u6b21\u306b\u6570\u5b57\u306e\u6587\u5b57\u5217\uff08rs7412\u306a\u3069\uff09\u304c\u7d9a\u304d\u307e\u3059\u3002 \u3053\u306eID\u3092\u5165\u529b\u3059\u308b\u3068\u3001SNP\u306e\u5834\u6240\u3001\u95a2\u9023\u3059\u308b\u53ef\u80fd\u6027\u306e\u3042\u308b\u75c5\u6c17\u306a\u3069\u306b\u95a2\u3059\u308b\u60c5\u5831\u306b\u76f4\u63a5\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002 <\/p>\n\n<p>\u5f62\u5f0f\u306b\u95a2\u4fc2\u306a\u304f\u3001\u751f\u306eDNA\u30d5\u30a1\u30a4\u30eb\u306b\u306f\u901a\u5e38\u3001\u907a\u4f1d\u7684\u5909\u7570\u3068\u305d\u306eID\u306e\u30ea\u30b9\u30c8\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002 Nebula Genomics\u3067\u306f\u3001\u6700\u3082\u4e00\u822c\u7684\u306b\u4f7f\u7528\u3055\u308c\u3066\u3044\u308b\u5f62\u5f0f\u3067\u3042\u308bVCF\u5f62\u5f0f\u3067\u30e6\u30fc\u30b6\u30fc\u306b\u907a\u4f1d\u7684\u5909\u7570\u3092\u63d0\u4f9b\u3057\u3066\u3044\u307e\u3059\u3002 \u907a\u4f1d\u7684\u5909\u7570\u3092\u8abf\u3079\u308b\u306b\u306f\u3001Sublime\u306a\u3069\u306e\u30c6\u30ad\u30b9\u30c8\u30a8\u30c7\u30a3\u30bf\u30fc\u3067VCF\u30d5\u30a1\u30a4\u30eb\u3092\u4f5c\u6210\u3059\u308b\u304b\u3001\u661f\u96f2\u30e9\u30a4\u30d6\u30e9\u30ea\u306e\u7814\u7a76\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002 \u73fe\u5728\u307e\u3067\u306b\u30018000\u3092\u8d85\u3048\u308b\u907a\u4f1d\u7684\u5909\u7570\u3092\u5206\u6790\u3057\u3066\u304a\u308a\u3001\u6bce\u9031\u65b0\u3057\u3044\u7814\u7a76\u3068\u5909\u7570\u304c\u8ffd\u52a0\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n<p>\u7279\u5b9a\u306eSNP\u306e\u81e8\u5e8a\u7684\u95a2\u9023\u6027\u306b\u3064\u3044\u3066\u5b66\u3076\u305f\u3081\u306b\u3001ClinVar\u3092\u4f7f\u7528\u3057\u307e\u3057\u3087\u3046\u3002 \u306b\u79fb\u52d5\u3059\u308b\u3053\u3068\u304b\u3089\u59cb\u3081\u307e\u3057\u3087\u3046<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/\">\u30b5\u30a4\u30c8<\/a>\u3001\u30d5\u30ed\u30f3\u30c8\u30da\u30fc\u30b8\u306f\u6b21\u306e\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"889\" height=\"610\" src=\"https:\/\/nebula.org\/blog\/wp-content\/uploads\/2020\/06\/pasted-image-0-5.png\" alt=\"ClinVar&#x30DB;&#x30FC;&#x30E0;&#x30DA;&#x30FC;&#x30B8;&#x3002;\" class=\"wp-image-3890\" srcset=\"https:\/\/nebula.org\/blog\/wp-content\/uploads\/2020\/06\/pasted-image-0-5.png 889w, https:\/\/nebula.org\/blog\/wp-content\/uploads\/2020\/06\/pasted-image-0-5-300x206.png 300w, https:\/\/nebula.org\/blog\/wp-content\/uploads\/2020\/06\/pasted-image-0-5-768x527.png 768w\" sizes=\"(max-width: 889px) 100vw, 889px\" \/><figcaption>ClinVar\u30db\u30fc\u30e0\u30da\u30fc\u30b8\u3002<\/figcaption><\/figure>\n\n<p>\u3053\u306e\u30b5\u30a4\u30c8\u3067\u306f\u3001ClinVar\u3068\u65b0\u3057\u3044\u63d0\u51fa\u65b9\u6cd5\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u77e5\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002 \u3059\u3067\u306bSNP\u3092\u8003\u3048\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u691c\u7d22\u30d0\u30fc\u306b\u5165\u529b\u3057\u3066\u300c\u691c\u7d22\u300d\u3092\u62bc\u3059\u3060\u3051\u3067\u3059\u3002 \u3053\u3053\u3067\u306f\u3001SNPrs63750048\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u77e5\u308a\u305f\u3044\u3068\u601d\u3044\u307e\u3059\u3002<\/p>\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/lh4.googleusercontent.com\/rVEnX3c8stH_lc1CNqV310I_0zzixvh7IKcsArk3PKRW2YgNM6vujTsUXyG3NkSkhIX8K_sZ7Tbn6ob-jMRT-w75B-Rv3d0hQdRf6frdiMF-qhJuJqkxfHJK7ftEYtgzIczdGJtU\" alt=\"ClinVar&#x691C;&#x7D22;&#x3002;\"\/><\/figure>\n\n<p>SNP\u306b\u95a2\u3059\u308b\u60c5\u5831\u304cClinVar\u306b\u30a2\u30c3\u30d7\u30ed\u30fc\u30c9\u3055\u308c\u3066\u3044\u308b\u5834\u5408\u3001\u30b5\u30a4\u30c8\u306f\u305d\u306eSNP\u306e\u691c\u7d22\u7d50\u679c\u3092\u8fd4\u3057\u307e\u3059\u3002 PSEN2\u3068\u547c\u3070\u308c\u308b\u907a\u4f1d\u5b50\u306b\u4f4d\u7f6e\u3057\u3001\u30a2\u30eb\u30c4\u30cf\u30a4\u30de\u30fc\u75c5\u306e4\u578b\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u4e00\u76ee\u3067\u308f\u304b\u308a\u307e\u3059\u3002 \u30ea\u30f3\u30af\uff08\u30b9\u30af\u30ea\u30fc\u30f3\u30b7\u30e7\u30c3\u30c8\u3067\u5f37\u8abf\u8868\u793a\u3055\u308c\u3066\u3044\u308b\uff09\u3092\u30af\u30ea\u30c3\u30af\u3059\u308b\u3068\u3001SNP\u306b\u3064\u3044\u3066\u3055\u3089\u306b\u8a73\u3057\u304f\u77e5\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/lh3.googleusercontent.com\/pN75qRjFcWF5Qi3rQemejWNRwNFJc6lwLy2Bj41ZCFnFB8cW9MsZdpkfAbPSuWHX4L94sV6CR8VuYo-ivc_HfuS00UFkGq2M3V9QFLaJX2IizL_jcrMwK8DgRaUKeTHSraL2iTYz\" alt=\"\"\/><figcaption>\u306e\u691c\u7d22\u7d50\u679c\u3002<\/figcaption><\/figure>\n\n<p>\u3053\u306e\u30da\u30fc\u30b8\u3067\u306f\u3001\u30ea\u30f3\u30af\u3055\u308c\u3066\u3044\u308b\u53ef\u80fd\u6027\u306e\u3042\u308b\u3059\u3079\u3066\u306e\u6761\u4ef6\u3084\u3001SNP\u306b\u8a00\u53ca\u3057\u3066\u3044\u308b\u79d1\u5b66\u51fa\u7248\u7269\u306a\u3069\u3001SNP\u306b\u95a2\u3059\u308b\u8a73\u7d30\u60c5\u5831\u304c\u63d0\u4f9b\u3055\u308c\u3066\u3044\u307e\u3059\u3002 \u300c\u63d0\u51fa\u3055\u308c\u305f\u89e3\u91c8\u3068\u30a8\u30d3\u30c7\u30f3\u30b9\u300d\u30bb\u30af\u30b7\u30e7\u30f3\u306e\u5404\u72b6\u614b\u306b\u3064\u3044\u3066\u3001\u300c\u30a8\u30d3\u30c7\u30f3\u30b9\u306e\u8a73\u7d30\u300d\u30ea\u30f3\u30af\u3092\u30af\u30ea\u30c3\u30af\u3057\u3066\u3001SNP\u304c\u3069\u306e\u3088\u3046\u306b\u75c5\u6c17\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u304b\u3001\u305d\u3057\u3066\u3069\u306e\u3088\u3046\u306b\u767a\u898b\u3055\u308c\u305f\u304b\u3092\u77e5\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/lh5.googleusercontent.com\/DrRDZM_b5NmZdK1mFtM2QpDQKXtZBRyELTe5ZbgHLtDL88o8dtp84etXtYFofbUW7eCShefsR6AM8HS_xRm-ctUFSLzTPGKuFjkyJ54r-JjQMSeQijw7b_BSbb9fMVkJ_Oi_faLN\" alt=\"ClinVar&#x306E;&#x30A8;&#x30F3;&#x30C8;&#x30EA;&#x3002;\"\/><figcaption>ClinVar\u306e\u30a8\u30f3\u30c8\u30ea\u3002<\/figcaption><\/figure>\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/lh6.googleusercontent.com\/LvPjg1UTxkVLHLPGvNU52zPTcGhjcsBWHh03q6ICUshVmGWbbgu745BVw0u15cQiw2r82c-9KLyiL9O9ufgfeIJ7PMo7fY_BaIJVg3LZZ98DcF-df2BuUjCg609DuGBi1qxH7IxX\" alt=\"ClinVar&#x3067;&#x306E;&#x8A3C;&#x62E0;&#x3002;\"\/><figcaption>ClinVar\u3067\u306e\u8a3c\u62e0\u3002<\/figcaption><\/figure>\n\n<p>\u3053\u3053\u3067\u306f\u3001SNP\u304c\u30a2\u30eb\u30c4\u30cf\u30a4\u30de\u30fc\u75c5\u306b\u5192\u3055\u308c\u305f\u30a4\u30bf\u30ea\u30a2\u306e\u5bb6\u65cf\u3067\u7279\u5b9a\u3055\u308c\u305f\u3053\u3068\u304c\u308f\u304b\u308a\u307e\u3059\u3002 \u30b2\u30ce\u30e0\u306e\u3053\u306e\u5834\u6240\u3067\u306e\u901a\u5e38\u306e\u6587\u5b57\u306fC\u3067\u3059\u304c\u3001\u3053\u306e\u30d5\u30a1\u30df\u30ea\u30fc\u3067\u5b9f\u884c\u3055\u308c\u305f\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u306f\u3001\u591a\u304f\u306e\u30e1\u30f3\u30d0\u30fc\u304c\u540c\u3058\u5834\u6240\u306bT\u3092\u6301\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u3001PSEN2\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002 \u5831\u544a\u66f8\u306f\u3055\u3089\u306b\u3001\u5bb6\u65cf\u306e\u30e1\u30f3\u30d0\u30fc\u304c\u7d4c\u9a13\u3057\u305f\u7279\u5b9a\u306e\u75c7\u72b6\u306b\u6ce8\u76ee\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/lh5.googleusercontent.com\/gV4-x1TLWVuTRO8HsWU-osywaMaX5o74weDeDBQJl_UIuX1J0iDq6LijwaKA9-ODS7O87ximpu2pIu65sMZ5rU9xMl01d8pNvafrrBwJ4wu3q8Fw_rpgMZedtcew3R2U7st_q2U3\" alt=\"ClinVar&#x306E;&#x8A73;&#x7D30;&#x306A;&#x8A3C;&#x62E0;&#x3002;\"\/><figcaption>ClinVar\u306e\u8a73\u7d30\u306a\u8a3c\u62e0\u3002<\/figcaption><\/figure>\n\n<h3 class=\"wp-block-heading\"><strong>\u907a\u4f1d\u5b50\u306b\u3088\u308bClinVar\u306e\u691c\u7d22<\/strong><\/h3>\n\n<p>\u304a\u305d\u3089\u304f\u3001\u7279\u5b9a\u306eSNP\u3092\u5ff5\u982d\u306b\u7f6e\u3044\u3066\u304a\u3089\u305a\u3001\u4ee3\u308f\u308a\u306b\u3001\u95a2\u5fc3\u306e\u3042\u308b\u907a\u4f1d\u5b50\u306b\u5b58\u5728\u3059\u308b\u3059\u3079\u3066\u306eSNP\u3092\u898b\u3064\u3051\u305f\u3044\u3068\u8003\u3048\u3066\u3044\u307e\u3059\u3002 \u8208\u5473\u6df1\u3044SNP\u304c\u898b\u3064\u304b\u3063\u305f\u3089\u3001\u81ea\u5206\u306e\u30b2\u30ce\u30e0\u30c7\u30fc\u30bf\u306b\u623b\u3063\u3066\u3001\u3053\u306eSNP\u306e\u30b9\u30c6\u30fc\u30bf\u30b9\u3092\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002 <\/p>\n\n<p>ClinVar\u30db\u30fc\u30e0\u30da\u30fc\u30b8\u306b\u623b\u308b\u3053\u3068\u304b\u3089\u59cb\u3081\u3066\u3001\u3082\u3063\u3068\u77e5\u308a\u305f\u3044\u907a\u4f1d\u5b50\u3092\u691c\u7d22\u3057\u307e\u3059\u3002 \u3053\u306e\u5834\u5408\u3001\u30d0\u30ea\u30a8\u30fc\u30b7\u30e7\u30f3\u304c\u4e73\u304c\u3093\u306e\u767a\u75c7\u30ea\u30b9\u30af\u306e\u5897\u52a0\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u907a\u4f1d\u5b50\u3067\u3042\u308b\u300cBRCA\u300d\u3092\u691c\u7d22\u3057\u307e\u3059\u3002<\/p>\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/lh6.googleusercontent.com\/CAKjGzX8dKzfChstnyrWwhkReo19-_JlDcF1Ob4i5G4VzuBGjHgnjV0kXaxp0qKM7FATZ3Xc0AHpv3b-D6X72PSc07KqTP23KhUpu382Iy5XatXm96apbWXxNjhMfB37cX2VaLTU\" alt=\"&#x907A;&#x4F1D;&#x5B50;&#x540D;&#x306B;&#x3088;&#x308B;ClinVar&#x691C;&#x7D22;&#x3002;\"\/><figcaption>\u907a\u4f1d\u5b50\u540d\u306b\u3088\u308bClinVar\u691c\u7d22\u3002<\/figcaption><\/figure>\n\n<p>\u3053\u306e\u907a\u4f1d\u5b50\u540d\u3092\u691c\u7d22\u3059\u308b\u3068\u3001\u4f55\u767e\u3082\u306eClinVar\u30d0\u30ea\u30a2\u30f3\u30c8\u304c\u8fd4\u3055\u308c\u307e\u3059\u3002 \u305d\u308c\u3089\u306e\u3044\u304f\u3064\u304b\u306fBRCA\u907a\u4f1d\u5b50\u306b\u3042\u308a\u3001\u4ed6\u306fBRCA\u306b\u5bc6\u63a5\u306b\u95a2\u9023\u3059\u308b\u907a\u4f1d\u5b50\u306b\u3042\u308a\u307e\u3059\u3002 \u691c\u7d22\u7d50\u679c\u306b\u5727\u5012\u3055\u308c\u306a\u3044\u3088\u3046\u306b\u3001\u30da\u30fc\u30b8\u306e\u5de6\u5074\u306b\u3042\u308b\u30aa\u30d7\u30b7\u30e7\u30f3\u3092\u4f7f\u7528\u3057\u3066\u691c\u7d22\u7d50\u679c\u3092\u30d5\u30a3\u30eb\u30bf\u30ea\u30f3\u30b0\u3067\u304d\u307e\u3059\u3002 \u3053\u308c\u3089\u306b\u306f\u4ee5\u4e0b\u304c\u542b\u307e\u308c\u307e\u3059\uff1a<\/p>\n\n<ul class=\"wp-block-list\"><li>\u81e8\u5e8a\u7684\u610f\u7fa9\uff1a\u3053\u306eSNP\u306f\u7279\u5b9a\u306e\u75be\u60a3\uff08\u75c5\u539f\u6027\u3067\u75c5\u539f\u6027\u306e\u53ef\u80fd\u6027\u304c\u9ad8\u3044\uff09\u3092\u5f15\u304d\u8d77\u3053\u3059\u306e\u304b\u3001\u305d\u3046\u3067\u306a\u3044\uff08\u826f\u6027\u3067\u826f\u6027\u306e\u53ef\u80fd\u6027\u304c\u9ad8\u3044\uff09\u306e\u304b\uff1f \u305d\u308c\u3068\u3082\u3001\u305d\u306e\u52b9\u679c\u304c\u4f55\u3067\u3042\u308b\u304b\u306f\u4e0d\u660e\u3067\u3059\u304b\uff1f \u307e\u305f\u306f\u3001\u7570\u306a\u308b\u7814\u7a76\u304b\u3089\u306e\u77db\u76fe\u3059\u308b\u7d50\u679c\u304c\u3042\u308a\u307e\u3059\u304b\uff1f<\/li><li>\u5206\u5b50\u7684\u5f71\u97ff\uff1aSNP\u306f\u907a\u4f1d\u5b50\u306e\u914d\u5217\u306b\u3069\u306e\u3088\u3046\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3057\u307e\u3059\u304b\uff1f<\/li><li>\u30d0\u30ea\u30a8\u30fc\u30b7\u30e7\u30f3\u30bf\u30a4\u30d7\uff1a\u6587\u5b57\u304c\u30b7\u30fc\u30b1\u30f3\u30b9\u306b\u8ffd\u52a0\u3055\u308c\u3066\u3044\u307e\u3059\u304b\u3001\u305d\u308c\u3068\u3082\u524a\u9664\u3055\u308c\u3066\u3044\u307e\u3059\u304b\uff1f \u307e\u305f\u306f\u3001\u6587\u5b57\u304c\u5225\u306e\u6587\u5b57\u306b\u7f6e\u304d\u63db\u3048\u3089\u308c\u307e\u3059\u304b\uff08\u305f\u3068\u3048\u3070\u3001C\u304b\u3089T\uff09\uff1f<\/li><li>\u30ec\u30d3\u30e5\u30fc\u30b9\u30c6\u30fc\u30bf\u30b9\uff1a\u3053\u306eSNP\u306b\u306f\u3069\u306e\u304f\u3089\u3044\u306e\u81e8\u5e8a\u7684\u8a3c\u62e0\u304c\u3042\u308a\u307e\u3059\u304b\uff1f<\/li><\/ul>\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/lh4.googleusercontent.com\/oSFLs5QXaltkbxgATCBWTnxeiuEoB29wNYdrFhTkJyn1L9h7fXqzX-TZek5vgLrvQfrjuumTzWPXe2AJxo-Z62hcIyX3rlVRBYDi3oaj2qAdrGELa-EGgWRmrtDnpoC0WUO5TPK4\" alt=\"ClinVar&#x30D5;&#x30A3;&#x30EB;&#x30BF;&#x30FC;&#x3002;\"\/><figcaption>ClinVar\u30d5\u30a3\u30eb\u30bf\u30fc\u3002<\/figcaption><\/figure>\n\n<p>\u3055\u307e\u3056\u307e\u306a\u30d5\u30a3\u30eb\u30bf\u30fc\u3067\u591a\u6570\u306eSNP\u3092\u8abf\u3079\u305f\u5f8c\u3001\u4e0b\u306e\u8d64\u3044\u30dc\u30c3\u30af\u30b9\u3067\u5f37\u8abf\u8868\u793a\u3055\u308c\u3066\u3044\u308b\u30d0\u30ea\u30a2\u30f3\u30c8\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u898b\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/lh3.googleusercontent.com\/78hAFJGI6fQ_jMaak1dvClHLcmmWIQLCGWSh5xmFvAUfUlat8uvTPxoYaNGeDJiIfRBaPECXjiVp7LJQuzGnpleCrszq2T2GWIBar2-GWFef9yMM2YUO97QTOlCqu-oBdMhblwKp\" alt=\"\"\/><\/figure>\n\n<p>\u30ea\u30f3\u30af\u3092\u305f\u3069\u308b\u3053\u3068\u3067\u3001SNP\u306b\u95a2\u3059\u308b\u8a73\u7d30\u60c5\u5831\u3092\u3059\u3050\u306b\u77e5\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002 SNP\u306f\u300113\u756a\u67d3\u8272\u4f53\u4e0a\u306b\u3042\u308b\u6587\u5b57G\u304b\u3089\u6587\u5b57C\u3078\u306e\u5909\u5316\u3067\u3042\u308a\u3001\u4e73\u304c\u3093\u306e\u30ea\u30b9\u30af\u5897\u52a0\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3053\u3068\u304c\u308f\u304b\u308a\u307e\u3059\u3002 \u3055\u3089\u306b\u3001SNP\uff08rs81002796\uff09\u306eID\u3092\u5b66\u7fd2\u3067\u304d\u307e\u3059\u3002<\/p>\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/lh4.googleusercontent.com\/DsNHftykdXCHYdzCnBIZ8UBGpMpAYSKmAaEiX-thYPKsXDW5ax-L3JuNQaehkRC7z32hYvYhUsgsURoH7o4Nd8X5t0vCrIKGyzxO2YVGpUoNRB41TWewiMDEcexld9-b9W6PuyMr\" alt=\"ClinVar&#x306B;&#x304A;&#x3051;&#x308B;&#x81E8;&#x5E8A;&#x7684;&#x610F;&#x7FA9;&#x3002; \"\/><\/figure>\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/lh5.googleusercontent.com\/mR-qPI7A-77S1TzjcLVQer8HCoQYvL0reCoUM8aPjta3ajn_UkgEFahfbObb85Wnq22pdZtKQZ02ivk-bcbJHfVfpdgOVcUYxB_U-KQNBOXilkvXvdSP0TTPcrUouOiZjn36P-go\" alt=\"\"\/><figcaption>ClinVar\u306b\u304a\u3051\u308b\u81e8\u5e8a\u7684\u610f\u7fa9\u3002<\/figcaption><\/figure>\n\n<h3 class=\"wp-block-heading\"><strong>\u75c5\u6c17\u306b\u3088\u308bClinVar\u306e\u691c\u7d22<\/strong><\/h3>\n\n<p>\u6700\u5f8c\u306b\u3001\u7279\u5b9a\u306eSNP\u307e\u305f\u306f\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u3092\u5ff5\u982d\u306b\u7f6e\u3044\u3066\u3044\u306a\u3044\u5834\u5408\u306f\u3001\u7279\u5b9a\u306e\u75be\u60a3\u306b\u95a2\u9023\u3059\u308b\u3059\u3079\u3066\u306eSNP\u3092\u691c\u7d22\u3067\u304d\u307e\u3059\u3002 \u5fc5\u9808\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001[disease\/phenotype]\u691c\u7d22\u8a9e\u306e\u5f8c\u306b\u30bf\u30b0\u3092\u4ed8\u3051\u308b\u3068\u3001\u7d50\u679c\u3092\u7279\u5b9a\u306e\u6761\u4ef6\u306b\u6700\u3082\u9069\u5207\u306a\u3082\u306e\u3060\u3051\u306b\u5236\u9650\u3059\u308b\u306e\u306b\u5f79\u7acb\u3061\u307e\u3059\u3002 \u305f\u3068\u3048\u3070\u3001\u7cd6\u5c3f\u75c5\u306b\u95a2\u9023\u3059\u308bSNP\u306b\u95a2\u5fc3\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u300c\u7cd6\u5c3f\u75c5\u300d\u3068\u3044\u3046\u7528\u8a9e\u3067ClinVar\u3092\u691c\u7d22\u3067\u304d\u307e\u3059\u3002[disease\/phenotype] \u300d\u3002<\/p>\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/lh4.googleusercontent.com\/qw7-PR_j5W9pl7GgTbzuQ0emDun0Vti_qEKMfawcFzjR0An_QSxQBpUa7MyuqtgcBnbd4dOWxCBmFMAERePdJNxS2vdSABdLPNwn7_WV69ZtHEYT4HAU6fAQPy0v8ywvL68mfk3o\" alt=\"&#x75C5;&#x6C17;&#x306E;&#x540D;&#x524D;&#x306B;&#x3088;&#x308B;ClinVar&#x691C;&#x7D22;&#x3002;\"\/><figcaption>\u75c5\u6c17\u306e\u540d\u524d\u306b\u3088\u308bClinVar\u691c\u7d22\u3002<\/figcaption><\/figure>\n\n<p>\u4f55\u5343\u3082\u306e\u7d50\u679c\u304c\u8fd4\u3055\u308c\u308b\u306e\u3067\u3001\u7d50\u679c\u3092\u9664\u5916\u3057\u3066\u3001\u7cd6\u5c3f\u75c5\u306e\u300c\u5371\u967a\u56e0\u5b50\u300d\u3068\u3057\u3066\u78ba\u7acb\u3055\u308c\u3066\u3044\u308b\u7d50\u679c\u306e\u307f\u3092\u8868\u793a\u3057\u307e\u3057\u3087\u3046\u3002 \u6b21\u306b\u3001\u6700\u521d\u306e\u7d50\u679c\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u898b\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/lh5.googleusercontent.com\/SyJZ1K_37zmzgeB_XA7iLRIhAR3QJW-7RNWJc4v3TmwYK_qEhBwK9-B9t4XTU0Uv4lRToqn4teau-3tsGX5PUOFLfobaO5WPJXrJXWkPtoMmkMCGN-lApzBCpsULCK-iBx-YgKX1\" alt=\"&#x5371;&#x967A;&#x56E0;&#x5B50;&#x30D5;&#x30A3;&#x30EB;&#x30BF;&#x30FC;&#x3002;\"\/><figcaption>\u5371\u967a\u56e0\u5b50\u30d5\u30a3\u30eb\u30bf\u30fc\u3002<\/figcaption><\/figure>\n\n<p>\u30ea\u30f3\u30af\u3092\u305f\u3069\u308b\u3068\u3001\u3053\u306eSNP\u306f\u3001PTPN22\u3068\u3057\u3066\u77e5\u3089\u308c\u308b\u907a\u4f1d\u5b50\u306e1\u756a\u67d3\u8272\u4f53\u306b\u3042\u308bC\u304b\u3089G\u3078\u306e\u6587\u5b57\u306e\u5909\u5316\u3067\u3042\u308b\u3053\u3068\u304c\u308f\u304b\u308a\u307e\u3059\u3002 SNP\u306f\u30012006\u5e74\u306e\u51fa\u7248\u7269\u3067\u7279\u5b9a\u3055\u308c\u307e\u3057\u305f\u3002<\/p>\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/lh6.googleusercontent.com\/43az1kzg9BG0ZQPPFwGMy-v1Up8h2pkhZs6pueCtHB9HoaUdu1jSa8yWWn0OvUgO8zaozubG7B3XXZQxlND7qdLdb4DmootYRTH9NyJ1L-d4rynwlCbquJ1_zRzhcp2MbsJ8773G\" alt=\"\"\/><\/figure>\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/lh3.googleusercontent.com\/EFYrdgoq0wDW9xrCUI5SujdsjxTsckg4RWbiYQ8P2sH5YcYP3cDrBuRpCgqlNG_Zep3Z8MCF5mPHSor9CJKvZH2lIqDVGT4iGjhWBp5KWCbdxTvgKD9W3TqYt5agTbklCMJRGRFV\" alt=\"&#x6587;&#x5B66;&#x3078;&#x306E;&#x30EA;&#x30F3;&#x30AF;&#x3002;\"\/><figcaption>\u6587\u5b66\u3078\u306e\u30ea\u30f3\u30af\u3002<\/figcaption><\/figure>\n\n<p>SNP\u304c\u3069\u306e\u3088\u3046\u306b\u767a\u898b\u3055\u308c\u305f\u304b\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u77e5\u308a\u305f\u3044\u5834\u5408\u306f\u3001\u51fa\u7248\u7269\u306e\u30ea\u30f3\u30af\u3092\u305f\u3069\u3063\u3066\u8abf\u67fb\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u77e5\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/lh3.googleusercontent.com\/9Aqrlzd1Hnv3O3Nv1NidOAIPd_i9cbEUkf7E6ynbUAOtDkQXBZBMavWfQbSGrf8QlfN74D8cytSqrcg_aW0Ms_3uAZHKrhB8RScR1TzyCiFKOPk87DhFu9_HHZzZaWi9r67MIotn\" alt=\"&#x30EA;&#x30F3;&#x30AF;&#x3055;&#x308C;&#x305F;&#x7814;&#x7A76;&#x3002;\"\/><figcaption>\u30ea\u30f3\u30af\u3055\u308c\u305f\u7814\u7a76\u3002<\/figcaption><\/figure>\n\n<h2 class=\"wp-block-heading\"><strong>ClinVar\u306f\u5f37\u529b\u3067\u3059\u3002 \u8ce2\u304f\u4f7f\u3063\u3066\u304f\u3060\u3055\u3044\u3002<\/strong><\/h2>\n\n<p>ClinVar\u306f\u3001\u4f55\u5343\u3082\u306e\u5b9f\u9a13\u5ba4\u304a\u3088\u3073\u533b\u5b66\u7814\u7a76\u306e\u7d50\u679c\u3092\u307e\u3068\u3081\u305f\u5e83\u7bc4\u306a\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3067\u3059\u304c\u3001\u3053\u306e\u30c4\u30fc\u30eb\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3067\u306f\u306a\u3044\u3053\u3068\u306b\u6ce8\u610f\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002 \u533b\u5b66\u7684\u30a2\u30c9\u30d0\u30a4\u30b9\u3084\u8a3a\u65ad\u3092\u63d0\u4f9b\u3059\u308b\u3088\u3046\u306b\u306f\u8a2d\u8a08\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002 \u30b5\u30a4\u30c8\u3067\u306e\u691c\u7d22\u3067\u898b\u3064\u3051\u305f\u60c5\u5831\u304c\u3042\u306a\u305f\u306e\u5065\u5eb7\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u3068\u601d\u308f\u308c\u308b\u5834\u5408\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u3064\u3044\u3066\u533b\u5e2b\u307e\u305f\u306f\u4ed6\u306e\u8a8d\u53ef\u3055\u308c\u305f\u533b\u7642\u5c02\u9580\u5bb6\u306b\u76f8\u8ac7\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n<p>ClinVar\u30c1\u30e5\u30fc\u30c8\u30ea\u30a2\u30eb\u304c\u6c17\u306b\u5165\u308a\u307e\u3057\u305f\u304b\uff1f \u3053\u308c\u3089\u306e\u30c1\u30e5\u30fc\u30c8\u30ea\u30a2\u30eb\u3082\u5f79\u7acb\u3064\u304b\u3082\u3057\u308c\u307e\u305b\u3093\uff1a<\/p>\n\n<ul class=\"wp-block-list\"><li>\u3042\u306a\u305f\u306e\u30c0\u30a6\u30f3\u30ed\u30fc\u30c9\u65b9\u6cd5<a href=\"https:\/\/nebula.org\/blog\/ja\/23andme-login-sign-in\/\">23andMe<\/a>\u305d\u3057\u3066<a href=\"https:\/\/nebula.org\/blog\/ja\/%e7%a5%96%e5%85%88-%e3%83%ad%e3%82%b0%e3%82%a4%e3%83%b3\/\">AncestryDNA<\/a>\u30c7\u30fc\u30bf\uff1f<\/li><li>\u4f7f\u3044\u65b9<a href=\"https:\/\/nebula.org\/blog\/ja\/gedmatch-%e3%83%81%e3%83%a5%e3%83%bc%e3%83%88%e3%83%aa%e3%82%a2%e3%83%ab\/\">GEDmatch<\/a> \uff1f<\/li><li>\u4f7f\u7528\u65b9\u6cd5<a href=\"https:\/\/nebula.org\/blog\/ja\/nebula-library-unlocking-genetic-research\/\">\u661f\u96f2\u56f3\u66f8\u9928<\/a>\uff1f<\/li><li>\u65b9\u6cd5<a href=\"https:\/\/nebula.org\/blog\/ja\/%e7%94%9f%e3%81%ae%e3%82%b2%e3%83%8e%e3%83%a0%e3%83%87%e3%83%bc%e3%82%bf%e3%81%ae%e6%8e%a2%e7%b4%a2%e3%82%92%e9%96%8b%e5%a7%8b%e3%81%99%e3%82%8b%e6%96%b9%e6%b3%95\/\">\u30b2\u30ce\u30e0\u30c7\u30fc\u30bf\u3092\u63a2\u7d22\u3059\u308b<\/a>\uff1f<\/li><li>\u3069\u3046\u3084\u3063\u3066<a href=\"https:\/\/nebula.org\/blog\/ja\/%e8%a6%aa%e5%ad%90%e9%91%91%e5%ae%9a\/\">\u89aa\u5b50\u9451\u5b9a<\/a>\u4f5c\u696d\uff1f<\/li><li><a href=\"https:\/\/nebula.org\/blog\/ja\/dna-test-while-pregnant\/\">\u598a\u5a20\u4e2d\u306eDNA\u691c\u67fb\uff1f<\/a><\/li><\/ul>\n","protected":false},"excerpt":{"rendered":"<p>ClinVar\u3068\u306f\u4f55\u3067\u3059\u304b\uff1f \u591a\u304f\u306e\u4eba\u306b\u3068\u3063\u3066\u3001\u30b2\u30ce\u30e0\u306e\u914d\u5217\u3092\u6c7a\u5b9a\u3059\u308b\u3053\u3068\u306f\u3001\u523a &hellip;<\/p>\n<p class=\"read-more\"> <a class=\"ast-button\" href=\"https:\/\/nebula.org\/blog\/ja\/clinvar-%e3%83%81%e3%83%a5%e3%83%bc%e3%83%88%e3%83%aa%e3%82%a2%e3%83%ab\/\"> <span class=\"screen-reader-text\">ClinVar\u306e\u4f7f\u7528\u65b9\u6cd5-\u521d\u5fc3\u8005\u5411\u3051\u306e\u30c1\u30e5\u30fc\u30c8\u30ea\u30a2\u30eb<\/span> Read More \u00bb<\/a><\/p>\n","protected":false},"author":12,"featured_media":3902,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"om_disable_all_campaigns":false,"site-sidebar-layout":"default","site-content-layout":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","_FSMCFIC_featured_image_caption":"","_FSMCFIC_featured_image_nocaption":"","_FSMCFIC_featured_image_hide":"","footnotes":""},"categories":[4967],"tags":[],"class_list":["post-3858","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-tutorials-ja"],"yoast_head":"<!-- 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