| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Clear cell carcinoma of kidney |
Uncertain significance |
rs146575685 |
RCV005909288 |
| Hereditary ataxia |
Uncertain significance |
rs776376221 |
RCV005626767 |
| Hyperglycinuria |
Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity |
rs1553659698, rs149885788, rs2252547, rs17279437, rs776376221, rs569114783, rs886058526, rs2742388, rs17078308, rs763196010, rs539802611, rs570836605, rs531832972, rs368608688, rs774194927, rs886058536, rs73060335, rs60986539, rs371002443, rs144563792, rs775911371, rs747095857, rs758386, rs561215947, rs2742399, rs777914805, rs373219947, rs2271616, rs2251109, rs886058525, rs886058527, rs554759297, rs747117264, rs150768360, rs541425547, rs17213127, rs577430886, rs886058529, rs560591051, rs57468640, rs866725621, rs144151884, rs116590098, rs9811206, rs886058535, rs886058537, rs553024616, rs886058538, rs202094508, rs144826762, rs771872725, rs139940581, rs13314717, rs373600065, rs886058548, rs567898651, rs115438130, rs530275150, rs778688066, rs886058530, rs139410525, rs886058534, rs2531750, rs2251347, rs541823457, rs886058539, rs376448611, rs886058541, rs139256040, rs148597602, rs149854452, rs34458611, rs2276858, rs886058544, rs779053318, rs202049492, rs565896481, rs886058546, rs2271615, rs760366170, rs886058547, rs562961153, rs116082988, rs886058528, rs886058531, rs886058532, rs886058533, rs535180634, rs149175344, rs886058540, rs575264353, rs2191027, rs147777980, rs886058542, rs886058543, rs886058545, rs145164127, rs781203780, rs886058549, rs1275324148, rs531515127, rs150202041, rs924764104, rs912332829, rs1699531443, rs1699532342, rs1251895733, rs987669945, rs143482997, rs78001062, rs186839290, rs1699538615, rs1699540247, rs117126175, rs762250443, rs752347772, rs184846309, rs1027821966, rs913333687, rs745729359, rs141143340, rs1699558837, rs542094304, rs921917450, rs1246610058, rs1425320530, rs1035166323, rs1020234517, rs557189346, rs145987519, rs901771734, rs1325158693, rs145238631, rs1699585756, rs993581690, rs151248695, rs1699595536, rs1699598465, rs191934337, rs146474113, rs200277005, rs141811843, rs61731475, rs1422741609, rs768529237, rs145795590, rs185440350, rs147760034, rs149505473, rs375971612, rs200143318, rs776558771, rs145010504, rs139008024, rs143569697, rs142086756, rs201961518, rs371272274, rs763259500, rs1700351623, rs1700352155, rs1699865808, rs376754527 View all (148 more) |
RCV002499721 RCV002499715 RCV001810128 RCV000005117 RCV005399225 RCV000363784 RCV000271440 RCV000310229 RCV000261109 RCV000343771 RCV000400818 RCV000389512 RCV000288153 RCV000345501 RCV000334427 RCV000299229 RCV000356357 RCV000328961 RCV000376493 RCV000401642 RCV000260204 RCV000321340 RCV000290946 RCV000311879 RCV000401512 RCV000298927 RCV000267632 RCV000328467 RCV000294777 RCV000408279 RCV000306799 RCV000266892 RCV000372064 RCV000318695 RCV000387853 RCV000295815 RCV000308566 RCV000347199 RCV000303722 RCV000297740 RCV000355180 RCV000383767 RCV000291901 RCV000397058 RCV000305339 RCV000402380 RCV000393116 RCV000369565 RCV000277252 RCV000323190 RCV000278713 RCV000283113 RCV000313461 RCV000399219 RCV000304161 RCV000325307 RCV000375678 RCV000292451 RCV000401573 RCV000360897 RCV000268360 RCV000320064 RCV000339820 RCV000312192 RCV000325237 RCV000363544 RCV000284423 RCV000380125 RCV000400840 RCV000307665 RCV000362363 RCV000367975 RCV000355322 RCV000379245 RCV000284832 RCV000385237 RCV000338720 RCV000353127 RCV000358916 RCV000263937 RCV000383051 RCV000269995 RCV000359315 RCV000324472 RCV000349689 RCV000262736 RCV000386374 RCV000275132 RCV000332534 RCV000271512 RCV000336151 RCV000395050 RCV000347414 RCV000273388 RCV000319156 RCV000324758 RCV000393169 RCV000296311 RCV000351236 RCV000389165 RCV002493422 RCV002501015 RCV001150250 RCV001144121 RCV001144122 RCV001146004 RCV001146005 RCV001146006 RCV001146007 RCV001146008 RCV001146009 RCV001146010 RCV001148790 RCV001148791 RCV001148792 RCV001254017 RCV001150318 RCV001150319 RCV001144229 RCV001144230 RCV001144231 RCV001144232 RCV001144233 RCV001144234 RCV001146120 RCV001146121 RCV001146122 RCV001148924 RCV001148925 RCV001150444 RCV001150445 RCV001150446 RCV001150447 RCV001144348 RCV001144349 RCV001144350 RCV001146251 RCV001146252 RCV001149040 RCV001149041 RCV001149042 RCV001149043 RCV001150549 RCV001150550 RCV001150551 RCV001150552 RCV001144464 RCV001144465 RCV001146378 RCV001146381 RCV001149164 RCV001149165 RCV001150675 RCV001150676 RCV001144580 RCV001144581 RCV001144582 RCV001144583 RCV001146508 RCV001146509 RCV001146510 RCV001147629 RCV001146379 RCV001146380 |
| Iminoglycinuria |
Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity |
rs1553659698, rs149885788, rs371002443, rs777914805, rs376448611, rs779053318, rs565896481, rs147777980, rs781203780, rs1275324148, rs531515127, rs146474113, rs141811843, rs149505473, rs375971612, rs776558771, rs145010504, rs371272274, rs763259500 View all (4 more) |
RCV002499721 RCV002499715 RCV002488747 RCV002487518 RCV002504153 RCV002487515 RCV002487517 RCV002502323 RCV002487516 RCV002493422 RCV002501015 RCV002497568 RCV002483886 RCV002480537 RCV002505726 RCV002480548 RCV002505727 RCV002482282 RCV002505723 |
| SLC6A20-related disorder |
Benign; Likely benign; Uncertain significance |
rs17279437, rs371002443, rs758386, rs561215947, rs34458611, rs2271615, rs145298212, rs139609335, rs774703310, rs565155420, rs139429025, rs774269023, rs145795590, rs200143318, rs142086756 |
RCV003974797 RCV003912453 RCV003972458 RCV003910356 RCV003972457 RCV003972459 RCV003894743 RCV003923858 RCV003974232 RCV003934479 RCV003944390 RCV003956988 RCV003938499 RCV003945873 RCV003938501 |
| SLC6A20-related Neurodevelopmental Disorder |
Uncertain significance |
rs146575685 |
RCV004799542 |
| Uterine corpus endometrial carcinoma |
Uncertain significance |
rs531515127 |
RCV005897392 |
|
| Disease Name |
Relationship Type |
References |
| 2 Methylbutyryl CoA Dehydrogenase Deficiency |
Associate |
35236679 |
| Alzheimer Disease |
Associate |
30535121 |
| COVID 19 |
Associate |
32899439, 33164753, 33604698, 34425859, 34969185, 35212764, 35261286, 36292769, 37085563, 37160831, 39344392 |
| Diabetes Mellitus Type 2 |
Associate |
30535121, 34969185 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate |
30535121 |
| Hirschsprung Disease |
Associate |
25310821, 31358688 |
| Iminoglycinuria |
Associate |
19033659 |
| Mesothelioma Malignant |
Associate |
17659810 |
| Myopia |
Associate |
30535121 |
| Neoplasms |
Associate |
30535121 |
| Neurodegenerative Diseases |
Associate |
30535121 |
| Obesity |
Associate |
39344392 |
| Parkinson Disease |
Associate |
30535121 |
| Polyps |
Associate |
37085563 |
| Schizophrenia |
Associate |
30535121 |
| Urinary Bladder Neoplasms |
Associate |
22529986 |
| Virus Diseases |
Associate |
35261286 |
|