| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Familial cancer of breast |
Conflicting classifications of pathogenicity |
rs148886916 |
RCV005901245 |
| Glioma susceptibility 1 |
Benign |
rs746550082 |
RCV005870040 |
| Immunodeficiency |
Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign |
rs747303047, rs2035750914, rs747215016, rs771199145, rs753691324, rs757333746, rs779806445, rs749509432, rs776590259, rs546177959, rs2037673824, rs151172191, rs1042925684, rs200580359, rs1005932189, rs1391597908, rs750941750, rs908260075, rs750268591, rs1225190008, rs1029531992, rs1488062932, rs2151632923, rs756830190, rs2151716663, rs2151718207, rs768765670, rs372688181, rs2151721835, rs2037631916, rs778687177, rs1321523625, rs2035466318, rs2035480397, rs756626177, rs531151605, rs757903159, rs2151719300, rs2037592859, rs2151722180, rs1424166913, rs763792026, rs2151671248, rs762414992, rs542880704, rs745964993, rs558415060, rs1050946292, rs756137446, rs772261935, rs2037599925, rs2151720409, rs769953709, rs779894815, rs1224461973, rs776939678, rs202116987, rs2151716345, rs2151716729, rs144343499, rs145897440, rs759482158, rs2037605686, rs768420903, rs528549177, rs746931663, rs530092980, rs759542459, rs2151685989, rs1195133210, rs2151718016, rs780543657, rs370617398, rs1474965026, rs894702419, rs751417445, rs2151722869, rs774397341, rs56393495, rs201212691, rs746550082, rs7190054, rs3217434, rs3217435, rs200584511, rs751067427, rs2151718056, rs370045730, rs754921543, rs755846884, rs2151622284, rs2151621780, rs2151632884, rs2151621771, rs2151719456, rs2151633054, rs2151720583, rs764868144, rs2151719975, rs2151721303, rs2151621305, rs2037723323, rs746725926, rs1234391444, rs1304385326, rs750787383, rs750951612, rs2151720870, rs2037622928, rs752063700, rs2151726578, rs2151703042, rs779718608, rs932232039, rs559423977, rs369476982, rs112392728, rs2151671106, rs1302095085, rs768126058, rs2151723912, rs2037660998, rs1278786133, rs756565734, rs759052772, rs1227168530, rs1021178399, rs2151724480, rs2151723972, rs141926483, rs753321494, rs2151636834, rs1292308107, rs2037528426, rs2151719465, rs773069993, rs377262455, rs2151718556, rs748172080, rs781587305, rs751885798, rs2151720658, rs770668167, rs760790791, rs2151702872, rs760675028, rs149983493, rs2151720335, rs535022014, rs374351352, rs2151722285, rs1200373139, rs747731827, rs2037640263, rs1442970520, rs758346739, rs903831612, rs369235958, rs773730369, rs2151723697, rs754792616, rs2151722142, rs770795532, rs2151719034, rs1378468301, rs2037554143, rs2151633048, rs767567326, rs2151622067, rs2037653444, rs764512084, rs2151719367, rs2035851182, rs2151671127, rs199599792, rs200979203, rs2151720308, rs371564532, rs2151621367, rs754403311, rs1264938672, rs2151671782, rs1196767097, rs1330579544, rs149776149, rs200253876, rs2151720442, rs779138756, rs370755900, rs764911018, rs199749272, rs2151720439, rs377188619, rs1243614989, rs543739817, rs748261252, rs780409171, rs139231335, rs753703839, rs766360508, rs1464661641, rs1455259492, rs545266587, rs763446860, rs535074006, rs1455036781, rs557483217, rs900852295, rs2151723812, rs555016270, rs774078368, rs761618381, rs1284159327, rs2036564992, rs764966657, rs2151632845, rs768096607, rs747694582, rs2151721671, rs148486602, rs2151721366, rs747531388, rs373835590, rs201041243, rs2543924891, rs2544247017, rs2544241657, rs2544262651, rs2544131820, rs2543968740, rs2544245665, rs2544239288, rs2037659667, rs998259044, rs2544244459, rs778114906, rs762700463, rs2544249042, rs772347684, rs923852685, rs1184516308, rs1187292708, rs373621668, rs1187678352, rs770299334, rs747056408, rs1481354524, rs563419065, rs773641818, rs2544088907, rs775532252, rs745802873, rs754912220, rs1311069115, rs1471007475, rs2037658303, rs373843815, rs760192026, rs1233855173, rs982512384, rs753363604, rs1158070271, rs1235407076, rs1391814950, rs757843219, rs1453397225, rs2544244297, rs200900195, rs755756855, rs967432697, rs2544247740, rs1015193940, rs746061348, rs536381098, rs1016171735, rs2544240256, rs1011632849, rs2151718201, rs1483837988, rs2037521853, rs2035467918, rs760054297, rs1273292190, rs2544229291, rs770624275, rs1198206477, rs2037586716, rs773266542, rs2544242001, rs1166261719, rs2037584292, rs1274697643, rs369433506, rs2544131422, rs749715617, rs779524333, rs1376656674, rs2544237846, rs764119895, rs2035478468, rs759115511, rs1284326977, rs2037640122, rs2544242652, rs1405963728, rs2544245041, rs2544016925, rs1322568381, rs2035848124, rs2544255300, rs2543969825, rs2544229873, rs2544231465, rs764631262, rs2544091457, rs374473880, rs2544250175, rs2543922409, rs745394749, rs756590842, rs2543924492, rs775564054, rs760478635, rs1278261387, rs2544252568, rs2037661756, rs147609630, rs2544130771, rs2544232157, rs2544248967, rs775227883, rs772872180, rs377380596, rs1435158275, rs748586977, rs199525186, rs2544220913, rs1309106639, rs2544238304, rs2544131016, rs756169271, rs2544245962, rs2544180721, rs2544248611, rs1404150594, rs2544240338, rs2544230616, rs2544227387, rs1254336117, rs2544017087, rs376327806, rs370973558, rs1360098649, rs761664426, rs2544088815, rs2543985769, rs2543970077, rs2544221800, rs2544237212, rs2544232268, rs200844772, rs909825265, rs2544227225, rs1178197549, rs2543922135, rs550669855, rs138585527, rs2544238428, rs2544239399, rs2543921704, rs764212079, rs749465771, rs759325868, rs2037631750, rs2544264208, rs1419171877, rs2543969124, rs2544255234, rs2036046279, rs143475718, rs761602373, rs1182167500, rs766270692, rs2543986325, rs1457665601, rs1314082994, rs1597576381, rs757045798, rs1401183451, rs1597570550, rs2544253570, rs1567615808, rs2544238684, rs142214587, rs781315982, rs1367065740, rs1439351614, rs2543924028, rs1328674662, rs2544017492, rs2544262979, rs2544227692, rs2544248765, rs2543986547, rs764420444, rs2035469289, rs2544247373, rs2544249209, rs2037629600, rs2543968764, rs2544265247, rs2544221181, rs952352835, rs2544131447, rs2544231222, rs1567614729, rs2035850236, rs2544255490, rs2543985987, rs1456793859, rs1017724743, rs1378533009, rs2037634063, rs1186884192, rs774705037, rs1046212103, rs751031946, rs762792190, rs761941499, rs753187482, rs760968027, rs762586717, rs2543968539, rs750127974, rs758471464, rs763536891, rs768049317, rs1274668418, rs2036561989, rs2037639164, rs1177320299, rs201604723, rs1597571430, rs759293299, rs780190833, rs2544240729, rs761214173, rs774263990, rs368723927, rs767475443, rs760226441, rs1567613579, rs762391891, rs2037615413, rs769410314, rs1434803153, rs2544236515, rs764438107, rs976011406, rs753689210, rs745971118, rs2037636094, rs929724422, rs773363517, rs145602190, rs542353221, rs1202614548, rs148886916, rs61730073, rs61730074, rs779989621, rs56368098, rs140247329, rs1555534920, rs754574529, rs370482742, rs150642075, rs200933617, rs182069051, rs140085549, rs754416047, rs958258553, rs1555534626, rs777901572, rs1321905353, rs1567606090, rs1567617414, rs374998786, rs145862239, rs149255851, rs1039090408, rs759928002, rs1597550230, rs150038450, rs1597569091, rs1398457637, rs376624071, rs189877263, rs201856741, rs372430182, rs202102702, rs1335921240, rs746671507, rs762105144, rs148167814, rs760690970, rs200419455, rs1346250715, rs746229892, rs1246017789, rs1597574388, rs755263731, rs201563281, rs188500009, rs1597576910, rs376433264, rs1597488810, rs752147639, rs142219276, rs143392508, rs150693156, rs374964483, rs201942744, rs745397287, rs769499907, rs374613148, rs111919990, rs138012931, rs138688929, rs371616463, rs751126952, rs772261647, rs768892397, rs576653608, rs201684496, rs1372359943, rs150917774, rs1405287120, rs776971756, rs776096413, rs1299052323, rs546753827, rs369918817, rs752137755, rs1163354749, rs928159727, rs1315353608, rs369860927, rs755321383, rs2037570552, rs2037574787, rs768808566, rs1567613850, rs752600679, rs758918416, rs753594508, rs749246961, rs771597579, rs534769846, rs748392099, rs758828053, rs150303079, rs193135386, rs2036573840, rs201618723, rs2035749704, rs141565383, rs1441808759, rs776838710, rs2037607628, rs1303798077, rs2037654799, rs376194958, rs140045591, rs1379586467, rs765182239, rs937802712, rs190491342, rs2037669112, rs1249418195, rs1170182479, rs192156074, rs151223997, rs2037568833, rs377471401, rs774143282, rs2037590015, rs2037605270, rs2037616903, rs1003861783, rs2037718619, rs772080402 View all (577 more) |
RCV001326724 RCV001326604 RCV001313938 RCV001324872 RCV001313985 RCV001320642 RCV001317885 RCV001324831 RCV001316229 RCV001325590 RCV001323933 RCV001316039 RCV001348743 RCV001344991 RCV001338782 RCV001347493 RCV001345633 RCV001344938 RCV001342234 RCV001338256 RCV001361789 RCV001365344 RCV001370702 RCV001363753 RCV001363991 RCV001359755 RCV001371872 RCV001369994 RCV001365592 RCV001367769 RCV001364719 RCV001374333 RCV001400420 RCV001403835 RCV001398527 RCV001406996 RCV001397108 RCV001412029 RCV001411587 RCV001418073 RCV001394587 RCV001409992 RCV001444541 RCV001438569 RCV001439147 RCV001434258 RCV001447940 RCV001432453 RCV001429721 RCV001430366 RCV001425417 RCV001438378 RCV001470451 RCV001467186 RCV001464090 RCV001456443 RCV001473717 RCV001477857 RCV001462803 RCV001454806 RCV001470132 RCV001475326 RCV001456479 RCV001469975 RCV001450858 RCV001464292 RCV001494132 RCV001482866 RCV001506246 RCV001504328 RCV001501415 RCV001489086 RCV001480310 RCV001499350 RCV001487867 RCV001496789 RCV001485632 RCV001498111 RCV001501433 RCV001523747 RCV001520102 RCV001512438 RCV001513246 RCV001518206 RCV001518207 RCV001517420 RCV002073296 RCV001874423 RCV001989600 RCV002046358 RCV001959518 RCV001897738 RCV001923131 RCV001887336 RCV001990380 RCV001984329 RCV001905853 RCV001907175 RCV001967737 RCV001988345 RCV002046502 RCV001961462 RCV001953288 RCV001960463 RCV001995246 RCV002033922 RCV001937368 RCV001910431 RCV001905189 RCV001952280 RCV001958370 RCV002051094 RCV001966585 RCV001999375 RCV001902014 RCV002019889 RCV001912537 RCV002011112 RCV001888454 RCV001958964 RCV002044702 RCV001891859 RCV001896096 RCV001885004 RCV002014618 RCV001887495 RCV001945560 RCV001965661 RCV001988575 RCV002027457 RCV001886374 RCV001937986 RCV001916963 RCV001926570 RCV001994899 RCV001870769 RCV001933708 RCV001933777 RCV001995750 RCV001880464 RCV001957929 RCV002016400 RCV002005637 RCV002020738 RCV002029970 RCV001939708 RCV001998934 RCV002044276 RCV002048751 RCV002048795 RCV001991526 RCV001911454 RCV001896812 RCV001946012 RCV002025346 RCV002014181 RCV001971879 RCV002051213 RCV001931881 RCV001906539 RCV001889775 RCV001959949 RCV001886095 RCV001886096 RCV002047137 RCV001962476 RCV001980646 RCV002001897 RCV001969414 RCV002015791 RCV001988453 RCV001924485 RCV001916321 RCV001983505 RCV002027181 RCV001981129 RCV002038419 RCV002196870 RCV002085179 RCV002199440 RCV002174853 RCV002159219 RCV002072602 RCV002140932 RCV002130277 RCV002154945 RCV002154122 RCV002091601 RCV002156568 RCV002131925 RCV002148102 RCV002180539 RCV002134637 RCV002220896 RCV002220927 RCV002100461 RCV002118212 RCV002200268 RCV002163175 RCV002129245 RCV002180185 RCV002101226 RCV002151685 RCV002134368 RCV002090526 RCV002180650 RCV002104585 RCV002118756 RCV002136620 RCV002196344 RCV002209046 RCV002195481 RCV002124994 RCV002133154 RCV002154436 RCV002166580 RCV002210516 RCV002111992 RCV002193567 RCV002185292 RCV002164365 RCV002100700 RCV002154797 RCV002196034 RCV002185934 RCV002078137 RCV002199679 RCV002090715 RCV002190940 RCV002212525 RCV002115202 RCV002179860 RCV002163520 RCV002154474 RCV002092484 RCV002299006 RCV002304307 RCV002296503 RCV002301884 RCV002304536 RCV002299914 RCV002305211 RCV002299213 RCV002303498 RCV003071030 RCV003074582 RCV003067253 RCV003065436 RCV003070775 RCV003065374 RCV003037357 RCV003076286 RCV003091168 RCV003067748 RCV003067772 RCV003072531 RCV003072448 RCV003093642 RCV003080357 RCV002574551 RCV003084690 RCV003093136 RCV002588105 RCV002610125 RCV002610126 RCV002584869 RCV002607081 RCV002619734 RCV002611307 RCV002588356 RCV002603166 RCV002607686 RCV002633394 RCV002650885 RCV002634302 RCV002607988 RCV002629165 RCV002663914 RCV003115077 RCV003115472 RCV003121554 RCV003118933 RCV003118241 RCV002585767 RCV002578017 RCV002573033 RCV002571113 RCV002587722 RCV002593227 RCV002630702 RCV002614284 RCV002626979 RCV002675705 RCV002663351 RCV002685772 RCV002667816 RCV002653488 RCV002658678 RCV002663637 RCV002662782 RCV002686315 RCV002686358 RCV002706040 RCV002690311 RCV002745425 RCV002745438 RCV002736594 RCV002722122 RCV002786707 RCV002785454 RCV002776239 RCV002806066 RCV002741763 RCV002751417 RCV002781296 RCV002795844 RCV002790906 RCV002819245 RCV002810158 RCV002833131 RCV002856908 RCV002846975 RCV002834525 RCV002852544 RCV002880911 RCV002857263 RCV002866590 RCV002866401 RCV002876800 RCV002847152 RCV002895460 RCV002922790 RCV002933416 RCV002942218 RCV002918939 RCV002918769 RCV002975239 RCV002975281 RCV002954445 RCV002966996 RCV002959117 RCV002971560 RCV002985579 RCV002999185 RCV002982337 RCV002982236 RCV002995265 RCV002999518 RCV002991592 RCV003006093 RCV003021956 RCV003028114 RCV003028466 RCV003018923 RCV003016648 RCV003009881 RCV003033837 RCV003045830 RCV003032238 RCV003037592 RCV003034542 RCV003043477 RCV003059123 RCV003057074 RCV003044651 RCV003044352 RCV003048439 RCV003754999 RCV003755002 RCV003755024 RCV003755032 RCV003592028 RCV003592419 RCV003592450 RCV003592452 RCV003592481 RCV003592436 RCV003592522 RCV003592467 RCV003592459 RCV003592513 RCV003592628 RCV003592649 RCV003592742 RCV003592735 RCV003592851 RCV003592686 RCV003592631 RCV003593115 RCV003592951 RCV003592990 RCV003593322 RCV003591176 RCV003591301 RCV003591352 RCV003591416 RCV003591534 RCV003591458 RCV003591512 RCV003591386 RCV003591449 RCV003591551 RCV003591585 RCV003755055 RCV003755112 RCV003755067 RCV003755079 RCV003755103 RCV003755105 RCV003755175 RCV003755140 RCV003755242 RCV003755255 RCV003755235 RCV003755365 RCV003755411 RCV003755433 RCV003755401 RCV003755446 RCV003755391 RCV003755458 RCV003755500 RCV003755548 RCV003755474 RCV003755589 RCV003755590 RCV003755601 RCV003755668 RCV003755683 RCV003755720 RCV003755816 RCV003755813 RCV003755851 RCV003755757 RCV003755798 RCV003755800 RCV003755983 RCV003755988 RCV003755979 RCV003756005 RCV003756044 RCV003756069 RCV003756084 RCV003756106 RCV003756110 RCV003756045 RCV003756073 RCV003756097 RCV003756104 RCV003756124 RCV003756260 RCV003756234 RCV003756225 RCV003756303 RCV003756159 RCV003756399 RCV003756387 RCV003756356 RCV003756533 RCV003756613 RCV003756554 RCV003811088 RCV003815044 RCV003829653 RCV003837383 RCV003827190 RCV003837945 RCV003835420 RCV003833009 RCV003839679 RCV003847870 RCV003841982 RCV003842217 RCV003842228 RCV003842328 RCV003842335 RCV003850126 RCV003856189 RCV003846954 RCV003845168 RCV003861701 RCV003854679 RCV003866902 RCV003851539 RCV003869753 RCV003877942 RCV003874580 RCV003871306 RCV003879826 RCV003877407 RCV005104791 RCV000559134 RCV000536659 RCV000547932 RCV000525428 RCV000544454 RCV000526473 RCV002527676 RCV000537714 RCV000631396 RCV000631400 RCV000631397 RCV000631387 RCV000631390 RCV000631399 RCV000631388 RCV001509636 RCV000631389 RCV000631393 RCV000631398 RCV000631394 RCV000631391 RCV000631392 RCV000691394 RCV000706878 RCV000686134 RCV000702456 RCV000689253 RCV000704431 RCV000706780 RCV000685912 RCV000700505 RCV000819961 RCV000795271 RCV000820550 RCV000811401 RCV000805402 RCV000823526 RCV000793222 RCV000821771 RCV000815343 RCV000796305 RCV000812832 RCV000804393 RCV000797786 RCV000813637 RCV000792360 RCV000816150 RCV000823560 RCV000811881 RCV000800362 RCV000794941 RCV000822573 RCV000793942 RCV000807707 RCV000813040 RCV000800426 RCV000803959 RCV000797665 RCV000805557 RCV000819030 RCV000971950 RCV000892228 RCV000879829 RCV000892302 RCV000904610 RCV000907233 RCV000902261 RCV001404620 RCV000902909 RCV000924446 RCV000916162 RCV001471983 RCV001431889 RCV001425655 RCV001440421 RCV001502763 RCV000918996 RCV001446642 RCV000941515 RCV000937752 RCV001472884 RCV001423400 RCV001440459 RCV001440460 RCV001040627 RCV001045215 RCV001045270 RCV001071928 RCV001061937 RCV001042560 RCV001037830 RCV001049915 RCV001061382 RCV001062228 RCV001034921 RCV001047091 RCV001062494 RCV001041359 RCV001058115 RCV001066518 RCV001049527 RCV001046706 RCV001067725 RCV001059644 RCV001045703 RCV001069964 RCV001221875 RCV001216637 RCV001217009 RCV001217565 RCV001217786 RCV001217644 RCV001220782 RCV001209748 RCV001210658 RCV001210682 RCV001206399 RCV001230916 RCV001225787 RCV001227210 RCV001230675 RCV001234129 RCV001241804 RCV001295284 RCV001295056 RCV001308720 RCV001303674 RCV001300147 RCV001295761 RCV001299655 RCV001303627 RCV001296174 RCV001302147 RCV001301269 RCV001297236 |
| Immunodeficiency and Autoimmune Enterocolopathy |
Uncertain significance |
rs747215016 |
RCV002265980 |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
rs200979203 |
RCV005928045 |
| Malignant tumor of esophagus |
Benign |
rs200979203, rs746550082 |
RCV005928044 RCV005870041 |
| NFAT5-related disorder |
Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity |
rs778687177, rs56393495, rs369235958, rs756590842, rs1284780801, rs1196963400, rs1405287120, rs761664426, rs1016710420, rs373280302, rs144343499, rs145602190, rs542353221, rs61730073, rs61730074, rs56368098, rs140247329, rs201856741, rs148167814, rs755263731, rs143392508, rs150693156, rs374964483, rs201942744, rs745397287, rs374613148, rs201684496, rs201618723 View all (13 more) |
RCV003394005 RCV003980642 RCV003973433 RCV003403983 RCV004741423 RCV003397284 RCV003414351 RCV003405898 RCV003896935 RCV003959001 RCV003925586 RCV003915487 RCV003942736 RCV003962467 RCV003925587 RCV003905690 RCV003935755 RCV004740459 RCV003892748 RCV003392614 RCV003940708 RCV003940389 RCV003910615 RCV003912921 RCV003950676 RCV003958246 RCV003950861 RCV003945902 |
| Nonpapillary renal cell carcinoma |
Benign |
rs543739817 |
RCV005869715 |
|
| Disease Name |
Relationship Type |
References |
| Acquired Immunodeficiency Syndrome |
Associate |
17173480 |
| Adenocarcinoma of Lung |
Associate |
34257525 |
| Alzheimer Disease |
Associate |
33213512 |
| Arthritis |
Associate |
21717420 |
| Arthritis Rheumatoid |
Associate |
12223111, 21717420, 30184542 |
| Asthma |
Associate |
35417913 |
| Behcet Syndrome |
Associate |
26890122 |
| Breast Neoplasms |
Associate |
32802855 |
| Carcinoma Hepatocellular |
Associate |
29052520 |
| Carcinoma Non Small Cell Lung |
Associate |
30900402, 34257525, 37439026 |
| Carcinoma Squamous Cell |
Associate |
34257525 |
| Cardiomegaly |
Associate |
30842472, 35406003 |
| Colorectal Neoplasms |
Associate |
21289293, 32468035, 37424115 |
| Diabetic Nephropathies |
Associate |
23777469 |
| Drug Related Side Effects and Adverse Reactions |
Associate |
32028672 |
| Dry Eye Syndromes |
Stimulate |
32896986 |
| Dry Eye Syndromes |
Associate |
37026305, 37446230 |
| Hyperglycemia |
Associate |
30842472 |
| Hyperglycemic Hyperosmolar Nonketotic Coma |
Stimulate |
25878490 |
| Hypoxia |
Associate |
32028672, 36142220 |
| IgA Vasculitis |
Stimulate |
21717420 |
| Inflammation |
Associate |
27322952, 32896986, 35836925, 37446230 |
| Inflammatory Breast Neoplasms |
Associate |
25928084 |
| Leiomyoma |
Associate |
21496801 |
| Leiomyoma |
Stimulate |
30567472 |
| Lung Neoplasms |
Associate |
30900402, 38188678 |
| Melanoma |
Associate |
21109473 |
| Muscular Disorders Atrophic |
Associate |
27322952 |
| Muscular Dystrophy Duchenne |
Associate |
33287327 |
| Neoplasm Metastasis |
Associate |
21109473 |
| Neoplasm Metastasis |
Inhibit |
30184542 |
| Neoplasms |
Associate |
19011242, 36279721, 38188678 |
| Neoplasms |
Inhibit |
29052520 |
| Osteoarthritis |
Stimulate |
33903620 |
| Osteosarcoma |
Associate |
29970035 |
| Periodontitis |
Inhibit |
36142220 |
| Primary Immunodeficiency Diseases |
Associate |
38644452 |
| Pulmonary Arterial Hypertension |
Associate |
38506416 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
32901097 |
| Thymoma |
Associate |
27833920 |
| Vascular Calcification |
Stimulate |
26418500 |
|