Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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161497 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Stereocilin |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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STRC |
SynonymsGene synonyms aliases
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DFNB16 |
ChromosomeChromosome number
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15 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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15q15.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes a protein that is associated with the hair bundle of the sensory hair cells in the inner ear. The hair bundle is composed of stiff microvilli called stereocilia and is involved with mechanoreception of sound waves. This gene is part of a |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs2920791 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
rs139956283 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained |
rs144948296 |
G>A,C |
Pathogenic, pathogenic-likely-pathogenic |
Missense variant, coding sequence variant, stop gained |
rs147717802 |
G>A,C |
Likely-pathogenic |
Missense variant, stop gained, coding sequence variant |
rs199839039 |
C>T |
Likely-pathogenic, pathogenic |
Splice donor variant |
rs371513959 |
C>A |
Pathogenic |
Coding sequence variant, stop gained |
rs376104748 |
G>A,C |
Likely-pathogenic, uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
rs377480477 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs576724182 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
rs727503442 |
TCCAC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs727503443 |
C>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs727503444 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs727505074 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs748854592 |
C>T |
Pathogenic, likely-pathogenic |
Splice acceptor variant |
rs755471554 |
G>A,C |
Likely-pathogenic |
Stop gained, coding sequence variant, missense variant |
rs756606635 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
rs763904943 |
C>A,T |
Likely-pathogenic |
Missense variant, stop gained, coding sequence variant |
rs764864372 |
TG>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs766595464 |
C>T |
Pathogenic |
Splice donor variant |
rs769443188 |
C>A,G |
Pathogenic |
Missense variant, stop gained, coding sequence variant |
rs771264491 |
G>A,C |
Pathogenic |
Missense variant, stop gained, coding sequence variant |
rs774312182 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs778909195 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained |
rs786200882 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
rs786200883 |
AACA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs876657724 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
rs876657725 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs876657726 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs1344019160 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs1366021609 |
A>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1555447538 |
CTCACATCGTGCCTAG>- |
Likely-pathogenic |
Splice donor variant, coding sequence variant, intron variant |
|
miRNAmiRNA information provided by mirtarbase database.
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miRTarBase ID |
miRNA |
Experiments |
Reference |
MIRT1399443 |
hsa-miR-3647-3p |
CLIP-seq |
|
MIRT1399444 |
hsa-miR-4766-5p |
CLIP-seq |
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
Q7RTU9 |
Protein name |
Stereocilin |
Protein function |
Essential to the formation of horizontal top connectors between outer hair cell stereocilia. |
Family and domains |
|
Sequence |
MALSLWPLLLLLLLLLLLSFAVTLAPTGPHSLDPGLSFLKSLLSTLDQAPQGSLSRSRFF TFLANISSSFEPGRMGEGPVGEPPPLQPPALRLHDFLVTLRGSPDWEPMLGLLGDMLALL GQEQTPRDFLVHQAGVLGGLVEVLLGALVPGGPPTPTRPPCTRDGPSDCVLAADWLPSLL LLLEGTRWQALVQVQPSVDPTNATGLDGREAAPHFLQGLLGLLTPTGELGSKEALWGGLL RTVGAPLYAAFQEGLLRVTHSLQDEVFSILGQPEPDTNGQCQGGNLQQLLLWGVRHNLSW DVQALGFLSGSPPPPPALLHCLSTGVPLPRASQPSAHISPRQRRAITVEALCENHLGPAP PYSISNFSIHLLCQHTKPATPQPHPSTTAICQTAVWYAVSWAPGAQGWLQACHDQFPDEF LDAICSNLSFSALSGSNRRLVKRLCAGLLPPPTSCPEGLPPVPLTPDIFWGCFLENETLW AERLCGEASLQAVPPSNQAWVQHVCQGPTPDVTASPPCHIGPCGERCPDGGSFLVMVCAN DTMYEVLVPFWPWLAGQCRISRGGNDTCFLEGLLGPLLPSLPPLGPSPLCLTPGPFLLGM LSQLPRCQSSVPALAHPTRLHYLLRLLTFLLGPGAGGAEAQGMLGRALLLSSLPDNCSFW DAFRPEGRRSVLRTIGEYLEQDEEQPTPSGFEPTVNPSSGISKMELLACFSPVLWDLLQR EKSVWALQILVQAYLHMPPENLQQLVLSAEREAAQGFLTLMLQGKLQGKLQVPPSEEQAL GRLTALLLQRYPRLTSQLFIDLSPLIPFLAVSDLMRFPPSLLANDSVLAAIRDYSPGMRP EQKEALAKRLLAPELFGEVPAWPQELLWAVLPLLPHLPLENFLQLSPHQIQALEDSWPAA GLGPGHARHVLRSLVNQSVQDGEEQVRRLGPLACFLSPEELQSLVPLSDPTGPVERGLLE CAANGTLSPEGRVAYELLGVLRSSGGAVLSPRELRVWAPLFSQLGLRFLQELSEPQLRAM LPVLQGTSVTPAQAVLLLGRLLPRHDLSLEELCSLHLLLPGLSPQTLQAIPRRVLVGACS CLAPELSRLSACQTAALLQTFRVKDGVKNMGTTGAGPAVCIPGQPIPTTWPDCLLPLLPL KLLQLDSLALLANRRRYWELPWSEQQAQFLWKKMQVPTNLTLRNLQALGTLAGGMSCEFL QQINSMVDFLEVVHMIYQLPTRVRGSLRACIWAELQRRMAMPEPEWTTVGPELNGLDSKL LLDLPIQLMDRLSNESIMLVVELVQRAPEQLLALTPLHQAALAERALQNLAPKETPVSGE VLETLGPLVGFLGTESTRQIPLQILLSHLSQLQGFCLGETFATELGWLLLQESVLGKPEL WSQDEVEQAGRLVFTLSTEAISLIPREALGPETLERLLEKQQSWEQSRVGQLCREPQLAA KKAALVAGVVRPAAEDLPEPVPNCADVRGTFPAAWSATQIAEMELSDFEDCLTLFAGDPG LGPEELRAAMGKAKQLWGPPRGFRPEQILQLGRLLIGLGDRELQELILVDWGVLSTLGQI DGWSTTQLRIVVSSFLRQSGRHVSHLDFVHLTALGYTLCGLRPEELQHISSWEFSQAALF LGTLHLQCSEEQLEVLAHLLVLPGGFGPISNWGPEIFTEIGTIAAGIPDLALSALLRGQI QGVTPLAISVIPPPKFAVVFSPIQLSSLTSAQAVAVTPEQMAFLSPEQRRAVAWAQHEGK ESPEQQGRSTAWGLQDWSRPSWSLVLTISFLGHLL
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Sequence length |
1775 |
Interactions |
View interactions |
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Azoospermia |
Azoospermia |
rs200969445, rs144567652, rs765353898 |
|
Deafness |
DEAFNESS, AUTOSOMAL DOMINANT 16, Deafness, Autosomal Recessive 16, Deafness, Sensorineural, And Male Infertility |
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 |
25157971, 26011646, 11687802, 21078986, 26746617, 17098888 |
Deafness-infertility syndrome |
Deafness-infertility syndrome |
rs778909195 |
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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 |
|
Nonsyndromic deafness |
Nonsyndromic Deafness |
rs606231410, rs794729665, rs730880338, rs1566538321 |
18849963, 26746617, 26011646, 11687802 |
Oligospermia |
Oligospermia |
rs1602125411, rs2047796277, rs377712900 |
|
Spermatogenic failure |
Spermatogenic Failure 7 |
rs193929390, rs193929391, rs587776620, rs769825641, rs80034486, rs121918346, rs778145751, rs387906690, rs201095702, rs371195126, rs312262776, rs140210148, rs142371860, rs538539239, rs147579680, rs587777205, rs751879424, rs587777206, rs868256749, rs587777427, rs587777432, rs864309485, rs797045116, rs774225566, rs756459525, rs754130052, rs886041023, rs781693813, rs886041024, rs886041025, rs757326350, rs1131692234, rs1131692250, rs1131692251, rs779490893, rs373911488, rs768831533, rs1131692266, rs376788209, rs780798708, rs1555568575, rs1555472691, rs368728266, rs746049858, rs1554861288, rs1554862953, rs753300178, rs760609580, rs1554882484, rs147356105, rs1553756374, rs762760856, rs866096259, rs1262272674, rs1553756824, rs1554359685, rs1554359569, rs1554492164, rs1554491783, rs763654373, rs1553482689, rs116298211, rs766707325, rs144567652, rs768006618, rs1555365959, rs1555363275, rs577163578, rs765353898, rs777263062, rs140352254, rs1567621034, rs759646845, rs376903331, rs1559024613, rs1559034750, rs773975635, rs1559025141, rs1161498711, rs751680143, rs1567790522, rs777214459, rs772371753, rs759127010, rs764048407, rs1355278372, rs1559674534, rs780431020, rs750057655, rs1559708295, rs148431487, rs761592042, rs759727960, rs1031011371, rs1598595659, rs767723684, rs1598525781, rs1269179049, rs756973049, rs1574628422, rs1457312523, rs1589391313, rs1579486914, rs766352190, rs763399136, rs1489738488, rs1579951018, rs1579787268, rs1391102782, rs1375975527, rs1230916222, rs1580704451, rs1580383744, rs1580783651, rs1580529760, rs769554360, rs147597066, rs753831132, rs377712900, rs1677697539, rs2083311058 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Asthenozoospermia |
Asthenozoospermia |
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Non-syndromic sensorineural deafness |
Autosomal recessive non-syndromic sensorineural deafness type DFNB |
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Sensorineural hearing loss |
Sensorineural hearing loss, bilateral |
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