| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Clear cell carcinoma of kidney |
Likely benign |
rs145873257 |
RCV005899819 |
| Glioma susceptibility 1 |
Likely benign |
rs371317235 |
RCV005869858 |
| Idiopathic generalized epilepsy |
Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign |
rs998828744, rs766344856, rs750798420, rs113298071, rs371393737, rs769491451, rs905562885, rs372085042, rs1435955739, rs2083432188, rs138704494, rs2094181320, rs2094642843, rs1417087822, rs757319815, rs997305923, rs765974335, rs1242620682, rs139265655, rs752506752, rs751076623, rs1283928972, rs958684686, rs745880431, rs376877653, rs1315127050, rs775977215, rs1268768787, rs768579064, rs759738790, rs776577408, rs372365163, rs771567004, rs775667685, rs1378405539, rs372977736, rs764254377, rs2144803234, rs112339093, rs200198767, rs146803665, rs368442088, rs1159971428, rs781023213, rs2144461588, rs1351528483, rs1193035983, rs2152948676, rs577598050, rs182244522, rs141919506, rs749751319, rs148751394, rs2148629483, rs758714800, rs370887797, rs2152836590, rs1360100229, rs376061440, rs544967209, rs2146427156, rs2146426013, rs774774269, rs763604762, rs1403788049, rs760159651, rs751611395, rs2152958287, rs2152190628, rs1180011308, rs1325337150, rs1240585365, rs780839692, rs1257361531, rs761469568, rs527782263, rs781321986, rs764702003, rs773528139, rs2152189230, rs763620262, rs1352822587, rs780406377, rs2144810454, rs2152958333, rs371603385, rs781701289, rs760593868, rs201242998, rs1013691536, rs2073403458, rs760925781, rs2141262938, rs1603623680, rs774848304, rs765010942, rs781081302, rs2144812486, rs1304807131, rs753108920, rs2076811567, rs2094642630, rs768195911, rs754561652, rs1389613810, rs1196867548, rs766827645, rs1378738998, rs762873223, rs756935023, rs780351349, rs776439789, rs756984329, rs750150151, rs748651106, rs200892489, rs200394869, rs767678711, rs767972090, rs143601277, rs200813556, rs375075227, rs751549203, rs767727470, rs777768764, rs763250831, rs756360831, rs747421844, rs1285678739, rs1263847911, rs751374056, rs2065660205, rs1416883490, rs113881725, rs191016584, rs771443037, rs2302213, rs763792559, rs755253534, rs1347157111, rs2144802781, rs2152948167, rs772354139, rs1327343028, rs1355901802, rs371402357, rs368983711, rs770163669, rs770264923, rs2060799020, rs767190235, rs200846246, rs750342737, rs778547505, rs2083432841, rs759616730, rs2076772204, rs557383173, rs2094642425, rs772780511, rs2548521868, rs750258747, rs757494481, rs1261897218, rs2076793649, rs776368600, rs775318701, rs770947838, rs764886194, rs373349113, rs761520199, rs776822373, rs758785440, rs375042676, rs1006821072, rs542828240, rs371317235, rs1427959997, rs753003961, rs768548714, rs2509609375, rs752967236, rs2065688587, rs1282113144, rs1466309905, rs2509325920, rs1353751760, rs2509346925, rs2548523058, rs2510616894, rs889615462, rs768759230, rs1490574094, rs1351120730, rs749494970, rs745489912, rs754000952, rs780902521, rs766300841, rs371567019, rs777651404, rs776822682, rs1464709105, rs1259585181, rs765695547, rs2144802128, rs2548519268, rs768320667, rs771044128, rs2509879280, rs2509879358, rs757718956, rs1271196293, rs201490398, rs143573994, rs145861898, rs779034823, rs79369633, rs760846272, rs778728291, rs761874772, rs2509359590, rs2510617714, rs768320837, rs774467606, rs1370492285, rs2509825505, rs754708372, rs777211248, rs2508643639, rs746553919, rs1437060269, rs139251660, rs772995775, rs1192003172, rs184452994, rs2548524024, rs2509609326, rs772316128, rs2093615072, rs2510487380, rs2076806935, rs2076811340, rs2548520711, rs1568611039, rs1279254693, rs2509019879, rs2548524000, rs1352846497, rs748882469, rs762735864, rs2507160043, rs2095318021, rs965563468, rs2509879070, rs2509021983, rs768777551, rs2510616525, rs538050088, rs2509610886, rs2548519672, rs1359424859, rs2548519485, rs2548520763, rs1456446298, rs372098682, rs2507169671, rs760390213, rs1048084717, rs777939421, rs368263619, rs758822866, rs887302027, rs567736615, rs765283381, rs1406238959, rs1387893122, rs747612014, rs773859142, rs1465514323, rs1322833083, rs748133904, rs771083814, rs1239197769, rs62010201, rs1057521725, rs61742359, rs1060504699, rs199644500, rs143695164, rs17143930, rs748804086, rs140174146, rs1060504700, rs151214012, rs147023054, rs372761949, rs974157467, rs145873257, rs779418628, rs137880529, rs1555648980, rs761510301, rs150941982, rs376576588, rs1555542676, rs200053144, rs148594771, rs779321097, rs149974858, rs373077021, rs368113568, rs1312874997, rs766496349, rs147525462, rs1555812114, rs761205127, rs1567630819, rs778034989, rs1189994954, rs1567632409, rs146499343, rs1600686165, rs1600687118, rs771438834, rs890155302, rs767345247, rs139929599, rs1597853857, rs147306562, rs147261087, rs202136920, rs772611871, rs372725346, rs774530398, rs759837636, rs757485949, rs1478825837, rs1389267525, rs916986800, rs765683149, rs148909710, rs534312610, rs749403774, rs200006523, rs769265490, rs201549920, rs745729142, rs754737409, rs1217033932, rs1022794718, rs749852826, rs7187508, rs145006582, rs145351963, rs773668882, rs1037124321, rs201282652, rs772109063, rs921443679, rs1387824991, rs2094760665, rs1157311700, rs1312108862, rs767917479, rs200502098, rs535313416, rs369122393, rs2076775196, rs2076823058, rs375723096, rs750747492, rs772231726, rs2095316869, rs2065679298, rs1287710352, rs757066841, rs141994899, rs759654438, rs769785213, rs747242541, rs560607770, rs1597855236 View all (368 more) |
RCV001321209 RCV001312759 RCV001314275 RCV001320553 RCV001313037 RCV001316942 RCV001324413 RCV001326589 RCV001325657 RCV001313482 RCV001317295 RCV001348516 RCV001340816 RCV001350861 RCV001347597 RCV001347389 RCV001368960 RCV001365170 RCV001395694 RCV001413384 RCV001393360 RCV001409004 RCV001393244 RCV001403491 RCV001441020 RCV001444787 RCV001449129 RCV001435445 RCV001447215 RCV001444658 RCV001444343 RCV001440288 RCV001451044 RCV001475432 RCV001469485 RCV001469686 RCV001453258 RCV001477078 RCV001469505 RCV001477224 RCV001450589 RCV001472724 RCV001501138 RCV001492546 RCV001500339 RCV001482634 RCV001480653 RCV001496980 RCV001497527 RCV001494701 RCV001496165 RCV001487907 RCV001513768 RCV002004464 RCV001922104 RCV002038973 RCV002039134 RCV001967915 RCV001972873 RCV001991621 RCV001864890 RCV002034392 RCV001934475 RCV001932054 RCV001905969 RCV002037062 RCV001891138 RCV001929979 RCV002044613 RCV002044683 RCV001896210 RCV001945700 RCV002047973 RCV001951806 RCV001955270 RCV001891393 RCV001872872 RCV002046271 RCV001870102 RCV001957887 RCV001986832 RCV002016722 RCV002044313 RCV001878512 RCV001932842 RCV001964697 RCV001871181 RCV001901424 RCV001927632 RCV001909079 RCV001898801 RCV002005922 RCV002045640 RCV001948591 RCV002020776 RCV001918377 RCV001903657 RCV002029575 RCV001935773 RCV001962387 RCV001983123 RCV002039800 RCV001892368 RCV001920349 RCV001916314 RCV001940112 RCV002038645 RCV002043946 RCV002189904 RCV002182407 RCV002137829 RCV002174832 RCV002082441 RCV002071358 RCV002175152 RCV002190577 RCV002164443 RCV002103311 RCV002130215 RCV002164873 RCV002161076 RCV002161222 RCV002166024 RCV002190874 RCV002130011 RCV002172524 RCV002160188 RCV002102780 RCV002200249 RCV002115307 RCV002096103 RCV002209189 RCV002204823 RCV002086215 RCV002112706 RCV002193872 RCV002209962 RCV002210057 RCV002097910 RCV002097939 RCV002199994 RCV002166905 RCV002208675 RCV002130370 RCV002142997 RCV002182300 RCV002075992 RCV002159630 RCV002181949 RCV002205294 RCV002219382 RCV002095289 RCV002203795 RCV002217810 RCV002211545 RCV002165371 RCV002190988 RCV002170955 RCV002089450 RCV002295783 RCV002295009 RCV003071595 RCV003056701 RCV003060277 RCV003077296 RCV003093422 RCV003072993 RCV003071985 RCV003089434 RCV002588177 RCV003090548 RCV002620089 RCV002638004 RCV002629558 RCV002638385 RCV002632978 RCV002640517 RCV002654757 RCV002624377 RCV002651855 RCV003108436 RCV002573986 RCV002576955 RCV002580386 RCV002601593 RCV002638851 RCV002671664 RCV002714905 RCV002710132 RCV002694982 RCV002686030 RCV002710548 RCV002691153 RCV002815605 RCV002815050 RCV002839064 RCV002851486 RCV002890995 RCV002885578 RCV002882187 RCV002919092 RCV002947775 RCV002947894 RCV002909398 RCV002927718 RCV002928170 RCV002928211 RCV002972001 RCV002962374 RCV002967756 RCV002999137 RCV003033663 RCV003006286 RCV003046336 RCV003017542 RCV003042656 RCV003057639 RCV003030219 RCV003053497 RCV003036316 RCV003052547 RCV003049962 RCV000227343 RCV000231227 RCV001086644 RCV000227797 RCV000233569 RCV005101221 RCV005102624 RCV005104105 RCV003525576 RCV003525658 RCV003525422 RCV003525647 RCV003525773 RCV003526719 RCV003525700 RCV003525763 RCV003526661 RCV003525783 RCV003525816 RCV003526656 RCV003526812 RCV003526819 RCV003526899 RCV003527009 RCV003526797 RCV003526876 RCV003527408 RCV003527326 RCV003526384 RCV003526259 RCV003526352 RCV003526457 RCV003639390 RCV003639463 RCV003639507 RCV003639509 RCV003639537 RCV003639650 RCV003639599 RCV003639743 RCV003639669 RCV003639955 RCV003639853 RCV003639942 RCV003639780 RCV003639823 RCV003640015 RCV003640038 RCV003640083 RCV003640084 RCV003640027 RCV003640201 RCV003640301 RCV003640358 RCV003638149 RCV003638307 RCV003638254 RCV003638323 RCV003638292 RCV003638294 RCV003638506 RCV003638444 RCV003638439 RCV003638412 RCV003638414 RCV003638453 RCV003639131 RCV003639176 RCV003639178 RCV003639196 RCV003639311 RCV003639333 RCV003639334 RCV003810857 RCV003836942 RCV003858333 RCV003859655 RCV003863787 RCV003866606 RCV003860160 RCV003875885 RCV003869780 RCV003878797 RCV003638654 RCV000459810 RCV000475990 RCV000462760 RCV000474526 RCV000471744 RCV001084850 RCV000461385 RCV000468947 RCV000476755 RCV000462654 RCV001471417 RCV000476699 RCV000473773 RCV001857032 RCV003638673 RCV001080369 RCV001061679 RCV000537804 RCV000543107 RCV000548157 RCV000536907 RCV000557941 RCV000529151 RCV000558134 RCV000533056 RCV000544023 RCV000634987 RCV000634995 RCV000634990 RCV000634976 RCV000634975 RCV000634977 RCV002060728 RCV000634981 RCV000634970 RCV000634972 RCV000634994 RCV000634973 RCV000634974 RCV000705424 RCV000696077 RCV000706404 RCV000706071 RCV000698463 RCV000685462 RCV000699976 RCV000694824 RCV000812474 RCV000803953 RCV000793535 RCV000820568 RCV000824646 RCV000820743 RCV000796549 RCV000813593 RCV000802765 RCV000805004 RCV000863008 RCV000862974 RCV000861554 RCV000862653 RCV000864060 RCV000863259 RCV002064584 RCV001498321 RCV000869413 RCV001451544 RCV001475427 RCV002064647 RCV000868333 RCV000870441 RCV001443896 RCV000871635 RCV002547177 RCV001413049 RCV000966691 RCV000909290 RCV001497593 RCV000936282 RCV000937016 RCV001430122 RCV000936271 RCV001506296 RCV000989518 RCV003639296 RCV001050203 RCV001044775 RCV001035472 RCV001043502 RCV001037186 RCV001071950 RCV001047207 RCV001069866 RCV001215877 RCV001214938 RCV001218689 RCV001208399 RCV001208400 RCV001210431 RCV001206022 RCV001207597 RCV001211549 RCV001218802 RCV001225931 RCV001226307 RCV001234860 RCV001226638 RCV001237735 RCV001232346 RCV001244841 RCV001242813 RCV001245835 RCV001294656 RCV001306314 RCV001302962 RCV001308394 |
| Intellectual disability, autosomal dominant 46 |
Conflicting classifications of pathogenicity |
rs1057521725 |
RCV005860077 |
| Lung cancer |
Likely benign |
rs371317235, rs145873257 |
RCV005869859 RCV005899821 |
| Malignant tumor of esophagus |
Likely benign |
rs145873257 |
RCV005899818 |
| Neurodevelopmental disorder |
Conflicting classifications of pathogenicity |
rs1057521725 |
RCV006249633 |
| Ovarian serous cystadenocarcinoma |
Likely benign |
rs145873257 |
RCV005899820 |
| RBFOX1-related disorder |
Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; Benign |
rs372365163, rs577598050, rs141919506, rs2152190628, rs1352822587, rs763792559, rs371317235, rs371567019, rs779034823, rs79369633, rs1165813698, rs1799717079, rs538050088, rs928189351, rs772780511, rs748804086, rs151214012, rs145873257, rs137880529, rs113881725, rs757485949 View all (6 more) |
RCV003955960 RCV003956097 RCV003416363 RCV003401773 RCV003968599 RCV003911198 RCV003916483 RCV003936416 RCV003939897 RCV003977691 RCV003414371 RCV003904550 RCV003901831 RCV003899849 RCV003971510 RCV003960094 RCV003960034 RCV003915357 RCV003962486 RCV003960278 RCV003955648 |
| Self-limited epilepsy with centrotemporal spikes |
Likely benign; Uncertain significance |
rs147023054, rs372761949, rs974157467, rs145873257 |
RCV000656039 RCV000656038 RCV000656040 RCV000656041 |
|
| Disease Name |
Relationship Type |
References |
| 16p11.2 Deletion Syndrome |
Inhibit |
37903506 |
| Adenocarcinoma Mucinous |
Associate |
37768171 |
| Adenoma |
Associate |
23301059 |
| Alcoholism |
Associate |
31294817 |
| Alzheimer Disease |
Associate |
35627222 |
| Arthritis Rheumatoid |
Associate |
30423114 |
| Attention Deficit Disorder with Hyperactivity |
Associate |
19546859, 22678932 |
| Autism Spectrum Disorder |
Associate |
21614001, 22730494, 22952857, 32081867 |
| Autistic Disorder |
Associate |
19546859, 21614001, 22678932, 23575222, 26174448, 27260404, 31294817, 34535545, 37903506 |
| Bipolar Disorder |
Associate |
19567891, 39999946 |
| Breast Neoplasms |
Associate |
25823661 |
| Carcinogenesis |
Associate |
23301059 |
| Carcinoma Hepatocellular |
Associate |
23236287 |
| Carotid Stenosis |
Associate |
21309755 |
| Cognition Disorders |
Associate |
22678932 |
| Colorectal Neoplasms |
Associate |
23286373, 26222184 |
| Dementia |
Associate |
37420130 |
| Dermatitis Exfoliative |
Associate |
25950944, 28756411 |
| Developmental Disabilities |
Associate |
23602712 |
| Disease |
Associate |
22730494, 27264186 |
| Epilepsies Partial |
Associate |
26174448 |
| Epilepsy |
Associate |
23350840, 25950944, 26174448, 28756411 |
| Epilepsy Idiopathic Generalized |
Associate |
23350840, 24039908, 25243798, 26174448 |
| Epilepsy Rolandic |
Associate |
24039908, 26174448 |
| Epilepsy Temporal Lobe |
Associate |
25243798, 26174448 |
| Essential Tremor |
Associate |
36183486 |
| Glioma |
Associate |
18474104 |
| Heroin Dependence |
Associate |
31294817 |
| Heterotaxy Syndrome |
Associate |
27637763 |
| Hippocampal Sclerosis |
Associate |
26174448 |
| Language Disorders |
Associate |
23602712 |
| Liver Cirrhosis Biliary |
Associate |
20153395 |
| Lung Neoplasms |
Associate |
31512508 |
| Mental Disorders |
Associate |
23350840, 25950944, 39674387 |
| Mesothelioma Malignant |
Associate |
23830731 |
| Motor Neuron Disease |
Associate |
37903506 |
| Muscular Atrophy Spinal |
Associate |
19396477 |
| Myopia |
Associate |
27611182, 36395078 |
| Neoplasms |
Associate |
18474104, 30984543 |
| Neoplasms |
Inhibit |
23286373, 23830731 |
| Neuralgia |
Associate |
39674387 |
| Obesity |
Associate |
30547318, 37500688 |
| Obesity Morbid |
Associate |
31852448 |
| Osteoarthritis |
Associate |
19508968 |
| Pain |
Associate |
39674387 |
| Paresis |
Associate |
22678932 |
| Parkinson Disease |
Associate |
27264186 |
| Periodontitis |
Associate |
30547318 |
| Prader Willi Syndrome |
Associate |
34535545 |
| Pseudomyxoma Peritonei |
Associate |
37768171 |
| Psychotic Disorders |
Associate |
19567891 |
| Sarcoma Endometrial Stromal |
Associate |
38167455 |
| Schizophrenia |
Associate |
19546859, 22952857, 30597088, 31294817, 36833409, 39999946 |
| Seizures |
Associate |
23350840 |
| Stomach Neoplasms |
Associate |
20331625 |
| Tobacco Use Disorder |
Associate |
31294817 |
| Tourette Syndrome |
Associate |
19546859 |
|