Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
25861 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Whirlin |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
WHRN |
SynonymsGene synonyms aliases
|
CIP98, DFNB31, PDZD7B, USH2D, WI |
ChromosomeChromosome number
|
9 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
9q32 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromi |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs111033459 |
A>G |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, uncertain-significance |
Coding sequence variant, non coding transcript variant, synonymous variant |
rs137852839 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant |
rs137852840 |
G>A |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, stop gained, coding sequence variant, upstream transcript variant |
rs141807746 |
C>G,T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, non coding transcript variant, intron variant, coding sequence variant |
rs142990800 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
5 prime UTR variant, genic upstream transcript variant, missense variant, upstream transcript variant, non coding transcript variant, coding sequence variant |
rs150146590 |
G>A,C |
Likely-pathogenic, uncertain-significance |
Missense variant, downstream transcript variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant |
rs150586098 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Genic downstream transcript variant, downstream transcript variant, missense variant, coding sequence variant |
rs187221008 |
A>T |
Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance |
Intron variant, genic downstream transcript variant |
rs200131193 |
G>A,C |
Conflicting-interpretations-of-pathogenicity |
Intron variant, genic downstream transcript variant |
rs373552185 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, genic downstream transcript variant, downstream transcript variant, non coding transcript variant |
rs397517255 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
rs397517258 |
C>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, genic upstream transcript variant, frameshift variant, non coding transcript variant |
rs572671060 |
C>A,G |
Conflicting-interpretations-of-pathogenicity |
Upstream transcript variant, missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant |
rs749910508 |
C>- |
Likely-pathogenic |
5 prime UTR variant, splice donor variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant |
rs776268964 |
G>A,C,T |
Pathogenic |
Upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant, stop gained |
rs779760634 |
C>T |
Pathogenic |
Intron variant, splice acceptor variant |
rs869320674 |
C>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
rs1064794551 |
->C |
Likely-pathogenic |
5 prime UTR variant, genic upstream transcript variant, intron variant, frameshift variant, coding sequence variant, non coding transcript variant |
rs1306987034 |
C>-,CC |
Pathogenic |
5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant |
rs1564113368 |
CG>- |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
rs1589229634 |
G>- |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, frameshift variant |
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
Q9P202 |
Protein name |
Whirlin (Autosomal recessive deafness type 31 protein) |
Protein function |
Involved in hearing and vision as member of the USH2 complex. Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear. Involved in the maintenance of the hair bundle ankle region, |
PDB |
1UEZ
,
1UF1
,
1UFX
,
6KZ1
,
7EP7
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00595 |
PDZ |
140 → 219 |
PDZ domain |
Domain |
PF00595 |
PDZ |
279 → 357 |
PDZ domain |
Domain |
PF00595 |
PDZ |
816 → 890 |
PDZ domain |
Domain |
|
Sequence |
|
Sequence length |
907 |
Interactions |
View interactions |
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Cataract |
Cataract |
rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692 |
|
Deafness |
DEAFNESS, AUTOSOMAL RECESSIVE 31 |
rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822, rs118203957, rs111706634, rs118203988, rs1559365985, rs118203989, rs1559371613, rs1559372640, rs1559366000, rs118204026, rs118204027, rs118204028, rs118204029, rs118204030, rs118204031, rs1601632909, rs779841884, rs104893975, rs1581972457, rs1562687726, rs1562687295, rs398122997, rs119103279, rs28940307, rs137852839, rs121918339, rs876661301, rs28942097, rs28941781, rs876657371, rs267607120, rs1567381218, rs193919333, rs1564568849, rs1023746725, rs121908072, rs121908073, rs1169090943, rs121908076, rs786200882, rs786200883, rs1569770998, rs1569726455, rs121908134, rs121908136, rs1569771486, rs1569712066, rs28937893, rs104893883, rs104893882, rs74315205, rs1584317722, rs111033308, rs80338848, rs28939086, rs80338849, rs111033244, rs111033303, rs121908364, rs121908362, rs121908363, rs765884316, rs111033307, rs111033348, rs2129315781, rs121908365, rs111033199, rs111033254, rs111033205, rs111033313, rs121908366, rs111033212, rs786200885, rs74315437, rs111033270, rs121908348, rs121908349, rs111033271, rs121908351, rs121908352, rs121908354, rs137853001, rs199469706, rs137853002, rs137853003, rs137852999, rs28939084, rs137853000, rs1480243085, rs397515359, rs151045328, rs121908370, rs104894414, rs80356600, rs80356584, rs2147483647, rs80356605, rs80356593, rs28937591, rs80356602, rs80356596, rs80356586, rs2128781753, rs28937588, rs80358277, rs28939710, rs80358271, rs80358278, rs80358276, rs80358272, rs80358279, rs121908927, rs121908929, rs28938175, rs121908930, rs121908932, rs121908934, rs121908965, rs121908966, rs121908967, rs121908968, rs748108031, rs121908969, rs121908971, rs769884586, rs121908972, rs746051220, rs1270302810, rs1567664131, rs121909058, rs966621865, rs121909059, rs121909060, rs1591437831, rs1281790755, rs121909061, rs121909063, rs1591462832, rs398124631, rs121909056, rs121909057, rs137853073, rs121909110, rs121909111, rs1476157529, rs104894478, rs80356460, rs121912557, rs1562201376, rs121912558, rs121912561, rs1562283089, rs121965079, rs41298133, rs28934610, rs121965081, rs2135550200, rs121965082, rs2135478294, rs121965084, rs1555102843, rs121918379, rs1372141763, rs121918380, rs1191259480, rs267607037, rs80338834, rs80338829, rs80338828, rs80338831, rs121913657, rs137853235, rs1788701297, rs35887622, rs80338944, rs104894396, rs104894397, rs80338939, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs886037624, rs80338943, rs80338945, rs104894401, rs104894406, rs104894407, rs72474224, rs886037625, rs28931595, rs28931593, rs80338940, rs104894413, rs104894409, rs72561723, rs121912947, rs121912948, rs121912950, rs28999111, rs104894544, rs104894545, rs104894546, rs104894547, rs267606630, rs267606631, rs267606932, rs1801002, rs80338941, rs80356587, rs80356590, rs80356591, rs80356595, rs80356594, rs80356598, rs281875328, rs281875329, rs80338950, rs201539845, rs387906700, rs387906915, rs387906930, rs387906999, rs387907000, rs748150647, rs387907001, rs946085339, rs387907002, rs387907015, rs387907016, rs387907017, rs75949023, rs387907088, rs149258390, rs387907149, rs782540538, rs397515411, rs370965183, rs397515412, rs1233562246, rs397514588, rs902734999, rs397514599, rs1029389440, rs397514607, rs397514608, rs397515435, rs111033206, rs111033201, rs397516295, rs111033437, rs111033233, rs199897298, rs111033214, rs111033178, rs111033347, rs111033187, rs111033174, rs111033448, rs111033182, rs397516317, rs368657015, rs397516322, rs111033215, rs111033232, rs397516326, rs111033283, rs111033285, rs397516411, rs111033314, rs397516413, rs397516414, rs111033305, rs111033220, rs111033311, rs111033306, rs397516416, rs397516417, rs111033407, rs397516418, rs111033316, rs111033312, rs397516420, rs111033257, rs397516421, rs397516424, rs111033309, rs111033318, rs397516427, rs111033241, rs111033302, rs145254330, rs111033380, rs111033242, rs111033256, rs111033454, rs111033245, rs111033297, rs111033451, rs111033293, rs111033361, rs397516871, rs111033299, rs111033204, rs111033253, rs397516873, rs104894408, rs111033295, rs397516874, rs76434661, rs111033217, rs111033420, rs111033335, rs111033294, rs111033190, rs111033401, rs200451098, rs397517287, rs373462792, rs372466080, rs397517323, rs56264519, rs374793617, rs201632198, rs147231991, rs181949335, rs397517452, rs202033121, rs151001642, rs370898981, rs188119157, rs111033383, rs111033405, rs199766465, rs111033373, rs111033349, rs587777040, rs397515581, rs397515582, rs1443739332, rs397515583, rs397515589, rs397515590, rs397515591, rs201329629, rs397515596, rs397515598, rs199848801, rs397515601, rs147321712, rs143939430, rs397515605, rs397515608, rs397515609, rs397515610, rs1648206560, rs398122967, rs398123006, rs398123070, rs431905513, rs431905517, rs431905518, rs200656442, rs587777147, rs199700840, rs1064792854, rs483352866, rs483353048, rs483353050, rs483353049, rs587777424, rs587777691, rs587777692, rs202138002, rs281865414, rs183258549, rs137853969, rs587783647, rs587783646, rs143343083, rs606231308, rs606231410, rs794729665, rs724160024, rs724160022, rs724160025, rs724160021, rs724160020, rs724160026, rs724160018, rs724160016, rs724160015, rs724160014, rs200147906, rs397515597, rs727504567, rs727505088, rs727503430, rs727503428, rs727505273, rs545947177, rs727504301, rs727503329, rs727504709, rs376764423, rs727503066, rs730880338, rs727504302, rs148690740, rs139956283, rs727503442, rs199839039, rs727503443, rs377480477, rs727503444, rs727504304, rs372526764, rs727503493, rs377015931, rs201587138, rs373937326, rs727503309, rs201978571, rs727503315, rs727505104, rs727503062, rs111033403, rs797044491, rs797044512, rs730882242, rs786201027, rs794728016, rs539699299, rs786204504, rs786204581, rs370588279, rs786204421, rs746238617, rs786204730, rs542620119, rs786204600, rs146281367, rs786204474, rs786204601, rs786204450, rs786204739, rs368119540, rs200455203, rs752807925, rs786204523, rs748706627, rs786204597, rs771748289, rs773528125, rs786204690, rs756484720, rs786204491, rs781534323, rs104894395, rs111033296, rs371024165, rs368027306, rs371100799, rs786204841, rs786205880, rs786205881, rs772264564, rs794729637, rs875989828, rs869320674, rs797044960, rs1553165199, rs797044965, rs797044966, rs797044967, rs797044968, rs797044969, rs797044970, rs797044972, rs797044907, rs797045596, rs778909195, rs863225243, rs863225431, rs863225432, rs864309523, rs864309524, rs869312750, rs869312749, rs754391973, rs201650281, rs397516875, rs532203068, rs876657776, rs762352115, rs876657653, rs757820624, rs138527651, rs773404494, rs876657754, rs876657656, rs876657658, rs766753922, rs759174628, rs876657725, rs772536599, rs765468034, rs184435771, rs143797113, rs782255281, rs876661405, rs876661408, rs777112652, rs878853223, rs878853225, rs878853229, rs878853230, rs753896285, rs140236996, rs878853224, rs878853235, rs878853236, rs878853226, rs774312182, rs878853232, rs878853239, rs377385081, rs878853227, rs878853228, rs878853238, rs878853231, rs878854409, rs878854410, rs878854412, rs878854413, rs878854414, rs878854415, rs779445819, rs774518779, rs1554358720, rs374742590, rs750188782, rs886043441, rs886043616, rs763975867, rs370730786, rs886044666, rs886052676, rs201636911, rs1057516658, rs1057516953, rs1057516988, rs1057516881, rs768245266, rs912147281, rs777333979, rs777008062, rs147952620, rs142498437, rs1057517000, rs376653349, rs1057516243, rs1057517303, rs542079779, rs1057516472, rs770832663, rs758685587, rs1057516342, rs757027638, rs1057517261, rs1057517251, rs1057517264, rs138138689, rs377145777, rs201892914, rs376535635, rs1057517521, rs770116143, rs1057517508, rs767178508, rs199883710, rs1057517491, rs1057517519, rs371086981, rs1057517839, rs766631025, rs201895089, rs1057519601, rs1057519603, rs779077039, rs1057519604, rs1057519606, rs1057519607, rs1057523846, rs763797356, rs139805921, rs1060499651, rs751447996, rs781688103, rs1060499805, rs1060499810, rs1060499799, rs1060499808, rs727503483, rs1056396947, rs1060499788, rs1060499791, rs778251205, rs1060499792, rs1060499793, rs1060499789, rs1060499790, rs764153521, rs1060499800, rs1060499803, rs1060499801, rs1060499802, rs747656448, rs1060499794, rs375916159, rs1060499804, rs1060499798, rs373520843, rs1060499811, rs1060499809, rs549095193, rs141142414, rs554847663, rs571594379, rs1555543836, rs549138385, rs1064797088, rs1064797096, rs1555501320, rs1131691778, rs748302886, rs756790858, rs777911261, rs768620276, rs200090033, rs775633137, rs372855769, rs780170125, rs1555512658, rs778748895, rs1355262412, rs782166819, rs782063761, rs1199012623, rs1378679640, rs1569308571, rs756147087, rs1554874373, rs1554856042, rs753580324, rs1553353527, rs1403112959, rs1553356452, rs1554352234, rs1554352676, rs1554355011, rs201562855, rs1554360358, rs1554360678, rs763006761, rs192366176, rs1554360816, rs749013429, rs1399914687, rs1554362735, rs1390562340, rs1554871816, rs758382198, rs750880909, rs1554874879, rs1554874900, rs1264310782, rs1554877797, rs144948296, rs1248889536, rs752649606, rs530520654, rs1555341794, rs141774369, rs760461823, rs537227442, rs750078356, rs773916549, rs782292032, rs1555546699, rs1477766714, rs1555896285, rs1555342014, rs775828835, rs574007567, rs1306586204, rs1555683951, rs781546107, rs769443188, rs771720649, rs769260536, rs762551629, rs1554882652, rs371465450, rs1554357231, rs1221876133, rs1293971731, rs775428246, rs772430523, rs1157646266, rs748854592, rs748868741, rs375459945, rs397517376, rs764178233, rs771264491, rs759523751, rs763915229, rs373058706, rs1555051455, rs782539587, rs1064797090, rs866476223, rs1555547112, rs1245338270, rs952235302, rs771844359, rs750130520, rs571007078, rs768257384, rs936479651, rs1554275988, rs551348450, rs1554218566, rs1553950635, rs1409994676, rs201326023, rs918684449, rs747076316, rs1554359693, rs1045933779, rs1554354787, rs1275009555, rs121908361, rs201660407, rs1554359670, rs1205712508, rs768471577, rs1554360707, rs142656144, rs1554362815, rs1554822897, rs1168400018, rs1554822703, rs1328440878, rs756692340, rs1554833249, rs1554883705, rs143842048, rs1304228309, rs778110397, rs1187887456, rs1298596518, rs1223763703, rs758555088, rs147956944, rs1207247951, rs1554960388, rs1554960390, rs771279169, rs1283092935, rs1317951509, rs1385324903, rs921755529, rs782064437, rs775496999, rs1253943370, rs568612627, rs1555341926, rs1555341931, rs1555342007, rs1555341783, rs1555341960, rs1555341993, rs1555341949, rs769486081, rs1555341954, rs749861944, rs961865375, rs369245990, rs148737918, rs759201338, rs1553191001, rs549556142, rs1330406146, rs145666727, rs998045226, rs375759781, rs1567658710, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs762876554, rs757327146, rs1564555185, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs751906778, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs1271250198, rs1567411469, rs1566528901, rs1302739538, rs1558014576, rs759414956, rs149712664, rs1567649945, rs1568839335, rs747955135, rs147717802, rs755471554, rs576724182, rs1564556995, rs762226905, rs773573968, rs1233145763, rs377748152, rs1564554148, rs1485674839, rs1562505728, rs1564803868, rs1565129771, rs756606635, rs774366025, rs1567620939, rs1557977732, rs773648511, rs1567396832, rs1557659237, rs1558482554, rs1558489384, rs1559875009, rs371544695, rs1562835480, rs1284633493, rs1562835515, rs746427774, rs1241745103, rs776268964, rs1187168418, rs1564386891, rs1564583413, rs1564544199, rs1564544348, rs1564795354, rs1344509500, rs1565536400, rs1591961566, rs1565331646, rs1565455391, rs1566528185, rs763904943, rs1567618790, rs1229200252, rs1567623176, rs866595552, rs1567638693, rs1555543432, rs1240409145, rs766250454, rs1568278651, rs1569034190, rs1569040134, rs1569042693, rs1569046250, rs1564602202, rs1564759653, rs1564791773, rs1565017125, rs1555076948, rs1338605788, rs751142446, rs773461233, rs1567658906, rs1429442821, rs201613240, rs202086317, rs1298804148, rs1291519904, rs763572195, rs1567624190, rs749136456, rs1418245706, rs1422767764, rs1562336726, rs1558472243, rs1274464930, rs1558485249, rs587783645, rs763898293, rs1591158999, rs771622183, rs1339709390, rs1584292992, rs760866131, rs1589156388, rs1591019480, rs1589072933, rs1591999307, rs111033477, rs889110926, rs1322423998, rs775776282, rs1597787868, rs984967571, rs1584304377, rs760413427, rs773861155, rs1584337228, rs1584337274, rs1584344549, rs1720770872, rs773729617, rs752714222, rs1591224147, rs1597747826, rs1589079163, rs1589950125, rs1446588093, rs1591287317, rs1591310948, rs1591378140, rs1591514873, rs1597752877, rs766187994, rs281875327, rs1583335192, rs1598551290, rs111033290, rs1571147567, rs1571177726, rs1187285510, rs1584331188, rs1384677442, rs550153707, rs1583366400, rs1582024232, rs1599083635, rs1264383341, rs376104832, rs1366021609, rs757070287, rs1598914701, rs1601639680, rs759792660, rs1596339533, rs1601514990, rs1421964916, rs1952428470, rs1959056736, rs1442485603, rs2033273061, rs1407136283, rs963520367, rs951333133, rs1947057220, rs751369871, rs767270134, rs764867438, rs1288328459, rs2046752611, rs760069953, rs2032939837, rs1390498839, rs769983282, rs772048719, rs2094144044, rs1943288780, rs530874854 |
22147658 |
Hearing loss |
Sensorineural Hearing Loss (disorder) |
rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060 |
|
Myopia |
Myopia |
rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023 |
|
Nonsyndromic deafness |
Nonsyndromic Deafness |
rs606231410, rs794729665, rs730880338, rs1566538321 |
29270100, 15841483, 27344577, 27117407, 28600779, 12833159 |
Nystagmus |
Nystagmus |
rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896 |
|
Rod-cone dystrophy |
Rod-Cone Dystrophy |
rs267606641, rs199476133, rs193302849, rs777668842, rs775518991, rs752300607, rs142759730, rs756225251, rs536742386, rs1588830568, rs778907433 |
|
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
|
Usher syndrome |
Usher Syndrome, Type II, Usher syndrome type 2 |
rs80338903, rs397518008, rs111033367, rs121912598, rs121912599, rs80338902, rs111033364, rs111033272, rs121912600, rs587776538, rs111033334, rs137852839, rs137852840, rs2133130286, rs104894651, rs730880268, rs397515345, rs587776546, rs104894652, rs121908140, rs121908141, rs1085307049, rs111033258, rs121908142, rs111033267, rs1553776036, rs121908347, rs111033270, rs727502931, rs121908349, rs121908350, rs111033271, rs121908351, rs796051861, rs121908354, rs1307471318, rs137853001, rs199469706, rs111033260, rs137853003, rs137853004, rs1480243085, rs397515359, rs55983148, rs151045328, rs1403777293, rs121908370, rs121909762, rs796051863, rs796051864, rs796051865, rs121909763, rs796051866, rs796051867, rs121965079, rs41298133, rs1555062984, rs28934610, rs121965080, rs121965081, rs121965082, rs121965083, rs35689081, rs121965085, rs1555102843, rs113624356, rs267606932, rs201539845, rs387906700, rs1554135663, rs775098953, rs786200928, rs786205115, rs786205116, rs587776894, rs1589229634, rs1306987034, rs778110397, rs111033415, rs111033206, rs111033180, rs111033201, rs111033290, rs397516295, rs111033233, rs199897298, rs397516303, rs111033178, rs397516304, rs111033347, rs111033403, rs111033187, rs397516308, rs397516315, rs111033174, rs111033448, rs111033182, rs397516317, rs368657015, rs397516321, rs397516322, rs111033215, rs199606180, rs397516323, rs111033192, rs111033232, rs397516326, rs111033198, rs111033486, rs111033283, rs397516330, rs397516332, rs111033284, rs111033285, rs397517329, rs397517342, rs183431253, rs367928692, rs397517350, rs370983472, rs397517353, rs397517367, rs371981035, rs397517451, rs397517452, rs202033121, rs397517925, rs397517932, rs374963432, rs397517964, rs369522997, rs111033379, rs111033264, rs202175091, rs111033265, rs111033418, rs111033382, rs397517973, rs397517974, rs397517976, rs397517977, rs397517978, rs151148854, rs111033526, rs111033518, rs397517981, rs397517983, rs397517984, rs111033385, rs397517988, rs397517989, rs397517990, rs397517994, rs111033273, rs397518003, rs397518010, rs397518011, rs397518012, rs397518013, rs397518014, rs397518015, rs375668376, rs397518021, rs397518022, rs397518023, rs111033386, rs111033268, rs397518029, rs111033280, rs397518036, rs397518039, rs397518041, rs397518043, rs41308425, rs397518048, rs73090721, rs111033263, rs267600727, rs398124618, rs398124619, rs137853923, rs483353055, rs483353056, rs527236132, rs527236131, rs527236133, rs527236139, rs527236138, rs527236137, rs527236124, rs527236135, rs527236136, rs727504551, rs727505116, rs727503731, rs146733615, rs727504867, rs727503715, rs727505343, rs727503723, rs727503725, rs730880349, rs727505337, rs727503736, rs727504893, rs727504301, rs727503329, rs373169422, rs730880367, rs376764423, rs377670513, rs797044491, rs797044492, rs797044510, rs782252317, rs797044511, rs797044516, rs797044518, rs746523071, rs786204428, rs748706627, rs750228923, rs794727408, rs794727579, rs201657446, rs372347027, rs148660051, rs779791079, rs753330544, rs794729204, rs797045113, rs368049814, rs863224941, rs876657624, rs886037762, rs869312182, rs869312180, rs869312179, rs869312178, rs754391973, rs869312181, rs876657415, rs1057519383, rs760225886, rs766590491, rs876657733, rs876657731, rs397517963, rs876657730, rs773404494, rs876657754, rs753886326, rs876657655, rs782255281, rs1555090368, rs878853233, rs775177930, rs368675850, rs878853407, rs878853413, rs878853405, rs878853404, rs765293412, rs878853410, rs878853378, rs751130485, rs886039450, rs886039449, rs748810737, rs886039867, rs886039893, rs886041502, rs750396156, rs371777049, rs773539640, rs886043626, rs1057517533, rs536593247, rs373208120, rs1057516687, rs1057517224, rs989521806, rs1057516560, rs1057516613, rs1057516351, rs1057516472, rs1057516821, rs758921360, rs1057516780, rs1057516268, rs770832663, rs1057516656, rs1057516974, rs1057517325, rs1057517284, rs758685587, rs1057516342, rs201328768, rs757027638, rs781148814, rs138983888, rs1057517261, rs1057517443, rs1057516474, rs1057517150, rs1057517251, rs1057516892, rs758947077, rs370261904, rs1057517048, rs1057516470, rs1057517182, rs1057517264, rs1057516992, rs1057516770, rs138138689, rs377145777, rs201892914, rs376535635, rs374536346, rs752179149, rs1057518826, rs1057519193, rs1057519225, rs369793306, rs759898765, rs397517979, rs199840367, rs1057520662, rs763797356, rs1057520709, rs1060499714, rs1060499716, rs1060499796, rs1060499800, rs1060499801, rs747656448, rs1064793289, rs200712760, rs1064795047, rs1064793745, rs137954284, rs750803248, rs1064795722, rs750358148, rs1064797134, rs1064797136, rs1064797138, rs1064797153, rs753886165, rs1553258031, rs539192853, rs749702843, rs1003869920, rs1553252388, rs762159022, rs1362058696, rs1553252528, rs1553257502, rs1288381992, rs1285853856, rs1388040238, rs751111524, rs1035024403, rs1553298240, rs746551311, rs1215540106, rs780308389, rs1338169194, rs772808534, rs1554090072, rs777309662, rs1554117973, rs749956288, rs1355262412, rs1555051390, rs116892396, rs782166819, rs782063761, rs1555078942, rs1171417339, rs1555090294, rs1199012623, rs1383147250, rs1555069238, rs1461319754, rs750880909, rs1264310782, rs1553299022, rs754768875, rs1555627787, rs1366496013, rs774573692, rs534534437, rs769838859, rs762551629, rs761469964, rs201730567, rs769348776, rs1553327452, rs1553320397, rs757696771, rs199679165, rs143344549, rs777465132, rs769215629, rs769433759, rs1555051455, rs782539587, rs751176116, rs1553268563, rs141672841, rs866435331, rs782077721, rs1553320542, rs1554857840, rs1554877007, rs936479651, rs148695069, rs1561416879, rs765476745, rs768161313, rs1553252499, rs1553248234, rs1553250192, rs1553252041, rs1177257719, rs200871041, rs1553248216, rs1553261478, rs757676723, rs747160949, rs764917754, rs1295968274, rs764182950, rs753505333, rs747063294, rs1553252052, rs367674026, rs779572631, rs1553257707, rs746447649, rs1553268562, rs1553271002, rs1431048303, rs749452910, rs1553273330, rs1553274448, rs779716464, rs1553257705, rs1485173724, rs1553261372, rs1553250050, rs1553285919, rs1553287118, rs1553250150, rs1553299079, rs1162305984, rs1553250184, rs199782530, rs370327669, rs944675223, rs199982344, rs1553313308, rs1553261479, rs988693758, rs760302201, rs1553313810, rs1414935620, rs749726310, rs1380261595, rs770383273, rs993185407, rs483353054, rs1553273412, rs1269642027, rs1553268582, rs762608746, rs780779563, rs1553287070, rs1553294144, rs772124060, rs1553258122, rs775293551, rs1553272201, rs754374132, rs1553300016, rs1553274424, rs1553300558, rs772100045, rs771051185, rs1553272176, rs1553273421, rs143521854, rs1553300340, rs745350407, rs756623509, rs764797292, rs1284826852, rs767078782, rs1342455785, rs1553320451, rs1177198729, rs372927796, rs1553250627, rs1394737087, rs748961218, rs771583281, rs1188025733, rs868562952, rs758571672, rs1553250952, rs1171672823, rs758303489, rs1553257761, rs1484339054, rs1553258097, rs1553258037, rs781223647, rs376155416, rs1553776061, rs1553776112, rs1553776052, rs1553776135, rs1553772595, rs1553776132, rs1554822897, rs1554823229, rs1554833242, rs1554836566, rs1402893508, rs1554882546, rs1554956088, rs1554806149, rs1554903842, rs1168400018, rs1555032952, rs903145299, rs1554934073, rs1554940316, rs1554822703, rs1554823231, rs1554824185, rs1328440878, rs1554833227, rs1554833314, rs1554872194, rs1554833699, rs1554822891, rs756692340, rs1554833249, rs1554852472, rs1554873550, rs1554883705, rs1554956023, rs1554816541, rs1554903979, rs143842048, rs1304228309, rs1555135419, rs147956944, rs1482487617, rs1207247951, rs1317951509, rs1385324903, rs782787126, rs782064437, rs782292032, rs1472566324, rs766641715, rs1555095933, rs1555099541, rs878864531, rs548172627, rs1555067667, rs755934966, rs1558151555, rs1560449207, rs1253419936, rs1564796487, rs1557720377, rs1564634581, rs767797828, rs201866631, rs1262416703, rs750647872, rs765574676, rs781989117, rs1568445893, rs727502919, rs1558111861, rs1561660434, rs1564794944, rs745571683, rs762226905, rs1558141330, rs758660532, rs41314534, rs1301139848, rs777629750, rs1039517349, rs1190307769, rs749314857, rs1564796673, rs1564808024, rs1561441451, rs1561543496, rs377650415, rs1561790371, rs1561843914, rs1316299165, rs1561805689, rs1559982739, rs1561740143, rs1571657875, rs1360258103, rs201863550, rs754970095, rs201205811, rs760858249, rs770329105, rs759187261, rs1200012430, rs1293202153, rs1591095476, rs1571801514, rs1230303971, rs1580905929, rs1581711527, rs1571949388, rs368770647, rs1571783742, rs1572020896, rs759433119, rs1572088481, rs1415484067, rs1415157305, rs1571703770, rs933370216, rs1439933768, rs1580845586, rs765376986, rs1581135405, rs1589950125, rs1590691343, rs1571703801, rs1386612395, rs1576651623, rs1580567084, rs1276890742, rs1591467894, rs1571876788, rs1580864592, rs764583867, rs1571945476, rs1571953449, rs1571686349, rs1571762632, rs1571941511, rs368687374, rs45555435, rs777701725, rs201625237, rs1576631624, rs1581041519, rs1581196586, rs750027965, rs1591286671, rs1591470904, rs1598584825, rs1656419435, rs754834155, rs1657799383, rs1657965422, rs1657996197, rs1662772955, rs1667316878, rs2030619513, rs2034849647, rs2034850724, rs2034948574, rs2036152207, rs1571701069, rs2038569132, rs2039616380, rs929034631, rs1767988429, rs1416386069, rs1841885880, rs1850678559, rs1850961650, rs1954240719, rs782396605, rs1956938352, rs1571947757, rs1358947010, rs1571701072, rs1571801788, rs1384677442, rs1292050472, rs1591286221, rs1555067598, rs1591369118, rs1296612982, rs760251968, rs1571929573, rs774677256, rs1571657777, rs376674482, rs746618021, rs201845656, rs1580624630, rs1591467918, rs750321557, rs1403618793, rs780036975, rs1424639717, rs1667314337, rs2032147505, rs201529124, rs2034899784, rs376591221, rs1364987785, rs2039614529, rs756193571, rs771766431, rs759981467, rs782281371, rs778934538, rs1359109336, rs767630412, rs1841212177, rs758482449, rs1656901821, rs1662771528, rs1665132445, rs769198746, rs2034852728, rs757154662, rs757525434, rs1758488956, rs1764301206, rs749747871, rs780609120, rs1235430504, rs2034951427, rs1661659605, rs1657036615, rs2034938852 |
27117407, 28254438, 22147658, 16434480, 12833159, 26338283, 17171570, 21738389, 20502675 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Anxiety disorder |
Anxiety |
|
|
Bipolar disorder |
Bipolar Disorder |
|
21507135 |
Cerebral cortical atrophy |
Cerebral cortical atrophy |
|
|
Ciliopathies |
Ciliopathies |
|
|
Disorder of eye |
Disorder of eye |
|
|
Hallucinations |
Hallucinations |
|
|
Hemianopsia |
Hemianopsia |
|
|
Hereditary retinal dystrophy |
Hereditary retinal dystrophy |
|
21738389, 17171570, 20502675, 12833159, 22147658, 16434480, 26338283, 27117407, 28254438 |
Mental depression |
Depressive disorder |
rs587778876, rs587778877 |
|
Microdontia |
Microdontia (disorder) |
|
|
Non-syndromic sensorineural deafness |
Autosomal recessive non-syndromic sensorineural deafness type DFNB |
|
|
Nyctalopia |
Nyctalopia |
|
|
Subcortical cerebral atrophy |
Subcortical cerebral atrophy |
|
|
|
|
|