TMPRSS3 (transmembrane serine protease 3)

Gene

• Entrez ID: 64699
• Gene name: Transmembrane serine protease 3
• Gene symbol: TMPRSS3
• Synonyms: DFNB10, DFNB8, ECHOS1, TADG12
• Chromosome: 21
• Chromosome location: 21q22.3
• Summary: This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, an LDL receptor-like domain, and a scavenger receptor cysteine-rich domain. Serine proteases are known t

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28939084	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs56264519	C>T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs111033292	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs137852999	C>G	Pathogenic	Missense variant, coding sequence variant
rs137853000	C>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs139484231	C>T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, coding sequence variant
rs139805921	G>A	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs147231991	G>T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs181949335	C>T	Pathogenic	Missense variant, coding sequence variant
rs200090033	C>T	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs201018751	A>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs201632198	G>A	Pathogenic, uncertain-significance	5 prime UTR variant, missense variant, coding sequence variant
rs372526764	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs373058706	C>T	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs374793617	C>T	Pathogenic	Intron variant
rs387906915	T>C	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs397517368	C>T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs397517376	->T	Pathogenic	Frameshift variant, coding sequence variant
rs565348874	G>A,C,T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs727503493	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs727504304	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1060499811	A>T	Pathogenic	Coding sequence variant, stop gained
rs1237955948	C>A,T	Pathogenic	Splice acceptor variant
rs1429442821	C>T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1601514990	C>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT054791	hsa-miR-204-5p	Luciferase reporter assay, Western blot, qRT-PCR	24924414
MIRT439417	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439417	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1441102	hsa-miR-1304	CLIP-seq
MIRT1441103	hsa-miR-1908	CLIP-seq
MIRT1441104	hsa-miR-2467-5p	CLIP-seq
MIRT1441105	hsa-miR-3136-3p	CLIP-seq
MIRT1441106	hsa-miR-3186-5p	CLIP-seq
MIRT1441107	hsa-miR-3188	CLIP-seq
MIRT1441108	hsa-miR-3689a-3p	CLIP-seq
MIRT1441109	hsa-miR-3689c	CLIP-seq
MIRT1441110	hsa-miR-3929	CLIP-seq
MIRT1441111	hsa-miR-3975	CLIP-seq
MIRT1441112	hsa-miR-4269	CLIP-seq
MIRT1441113	hsa-miR-4281	CLIP-seq
MIRT1441114	hsa-miR-4316	CLIP-seq
MIRT1441115	hsa-miR-4318	CLIP-seq
MIRT1441116	hsa-miR-4419b	CLIP-seq
MIRT1441117	hsa-miR-4455	CLIP-seq
MIRT1441118	hsa-miR-4478	CLIP-seq
MIRT1441119	hsa-miR-4641	CLIP-seq
MIRT1441120	hsa-miR-4648	CLIP-seq
MIRT1441121	hsa-miR-4654	CLIP-seq
MIRT1441122	hsa-miR-4728-5p	CLIP-seq
MIRT1441123	hsa-miR-4769-5p	CLIP-seq
MIRT1441124	hsa-miR-485-5p	CLIP-seq
MIRT1441125	hsa-miR-579	CLIP-seq
MIRT1441126	hsa-miR-663	CLIP-seq
MIRT1441127	hsa-miR-663b	CLIP-seq
MIRT1441128	hsa-miR-3200-5p	CLIP-seq
MIRT1441129	hsa-miR-3660	CLIP-seq
MIRT1441130	hsa-miR-3673	CLIP-seq
MIRT1441131	hsa-miR-4477a	CLIP-seq
MIRT1441132	hsa-miR-4526	CLIP-seq
MIRT1441133	hsa-miR-571	CLIP-seq
MIRT1441134	hsa-miR-889	CLIP-seq
MIRT1441135	hsa-miR-944	CLIP-seq
MIRT2132069	hsa-miR-1285	CLIP-seq
MIRT2132070	hsa-miR-2278	CLIP-seq
MIRT2132071	hsa-miR-3187-5p	CLIP-seq
MIRT2132072	hsa-miR-371-5p	CLIP-seq
MIRT2132073	hsa-miR-371b-5p	CLIP-seq
MIRT2132074	hsa-miR-3926	CLIP-seq
MIRT2132075	hsa-miR-4252	CLIP-seq
MIRT2132076	hsa-miR-4675	CLIP-seq
MIRT2132077	hsa-miR-4741	CLIP-seq
MIRT2132078	hsa-miR-4793-3p	CLIP-seq
MIRT2132079	hsa-miR-508-5p	CLIP-seq
MIRT2132080	hsa-miR-548s	CLIP-seq
MIRT2132081	hsa-miR-612	CLIP-seq
MIRT2132082	hsa-miR-661	CLIP-seq
MIRT2132083	hsa-miR-766	CLIP-seq
MIRT2353178	hsa-miR-369-3p	CLIP-seq
MIRT2396080	hsa-miR-1827	CLIP-seq
MIRT2396081	hsa-miR-2110	CLIP-seq
MIRT2396082	hsa-miR-4271	CLIP-seq
MIRT1441113	hsa-miR-4281	CLIP-seq
MIRT2396083	hsa-miR-4649-3p	CLIP-seq
MIRT2396084	hsa-miR-4667-5p	CLIP-seq
MIRT2396085	hsa-miR-4700-5p	CLIP-seq
MIRT2396086	hsa-miR-4725-3p	CLIP-seq
MIRT2462001	hsa-miR-10a	CLIP-seq
MIRT2462002	hsa-miR-10b	CLIP-seq
MIRT2462003	hsa-miR-1262	CLIP-seq
MIRT1441103	hsa-miR-1908	CLIP-seq
MIRT2462004	hsa-miR-339-5p	CLIP-seq
MIRT2462005	hsa-miR-3613-3p	CLIP-seq
MIRT2132072	hsa-miR-371-5p	CLIP-seq
MIRT2132073	hsa-miR-371b-5p	CLIP-seq
MIRT2462006	hsa-miR-4259	CLIP-seq
MIRT2462007	hsa-miR-4421	CLIP-seq
MIRT1441117	hsa-miR-4455	CLIP-seq
MIRT2462008	hsa-miR-4684-5p	CLIP-seq
MIRT2462009	hsa-miR-4701-3p	CLIP-seq
MIRT2462010	hsa-miR-4715-5p	CLIP-seq
MIRT2462011	hsa-miR-548c-3p	CLIP-seq
MIRT2462012	hsa-miR-593	CLIP-seq
MIRT2462013	hsa-miR-609	CLIP-seq
MIRT1441126	hsa-miR-663	CLIP-seq
MIRT2462001	hsa-miR-10a	CLIP-seq
MIRT2462002	hsa-miR-10b	CLIP-seq
MIRT2462003	hsa-miR-1262	CLIP-seq
MIRT2132069	hsa-miR-1285	CLIP-seq
MIRT1441103	hsa-miR-1908	CLIP-seq
MIRT2132071	hsa-miR-3187-5p	CLIP-seq
MIRT2462004	hsa-miR-339-5p	CLIP-seq
MIRT2462005	hsa-miR-3613-3p	CLIP-seq
MIRT1441108	hsa-miR-3689a-3p	CLIP-seq
MIRT1441109	hsa-miR-3689c	CLIP-seq
MIRT2132072	hsa-miR-371-5p	CLIP-seq
MIRT2132073	hsa-miR-371b-5p	CLIP-seq
MIRT1441110	hsa-miR-3929	CLIP-seq
MIRT2132075	hsa-miR-4252	CLIP-seq
MIRT2462006	hsa-miR-4259	CLIP-seq
MIRT1441113	hsa-miR-4281	CLIP-seq
MIRT1441115	hsa-miR-4318	CLIP-seq
MIRT1441116	hsa-miR-4419b	CLIP-seq
MIRT2462007	hsa-miR-4421	CLIP-seq
MIRT1441117	hsa-miR-4455	CLIP-seq
MIRT1441118	hsa-miR-4478	CLIP-seq
MIRT1441120	hsa-miR-4648	CLIP-seq
MIRT1441121	hsa-miR-4654	CLIP-seq
MIRT2462008	hsa-miR-4684-5p	CLIP-seq
MIRT2462009	hsa-miR-4701-3p	CLIP-seq
MIRT2462010	hsa-miR-4715-5p	CLIP-seq
MIRT1441122	hsa-miR-4728-5p	CLIP-seq
MIRT1441123	hsa-miR-4769-5p	CLIP-seq
MIRT2132078	hsa-miR-4793-3p	CLIP-seq
MIRT1441124	hsa-miR-485-5p	CLIP-seq
MIRT2132079	hsa-miR-508-5p	CLIP-seq
MIRT2462011	hsa-miR-548c-3p	CLIP-seq
MIRT2462012	hsa-miR-593	CLIP-seq
MIRT2462013	hsa-miR-609	CLIP-seq
MIRT2132081	hsa-miR-612	CLIP-seq
MIRT2132082	hsa-miR-661	CLIP-seq
MIRT1441126	hsa-miR-663	CLIP-seq
MIRT2132083	hsa-miR-766	CLIP-seq
MIRT2462003	hsa-miR-1262	CLIP-seq
MIRT2132069	hsa-miR-1285	CLIP-seq
MIRT1441103	hsa-miR-1908	CLIP-seq
MIRT2132071	hsa-miR-3187-5p	CLIP-seq
MIRT2462004	hsa-miR-339-5p	CLIP-seq
MIRT2462005	hsa-miR-3613-3p	CLIP-seq
MIRT1441108	hsa-miR-3689a-3p	CLIP-seq
MIRT1441109	hsa-miR-3689c	CLIP-seq
MIRT2132072	hsa-miR-371-5p	CLIP-seq
MIRT2132073	hsa-miR-371b-5p	CLIP-seq
MIRT1441110	hsa-miR-3929	CLIP-seq
MIRT2132075	hsa-miR-4252	CLIP-seq
MIRT2462006	hsa-miR-4259	CLIP-seq
MIRT1441113	hsa-miR-4281	CLIP-seq
MIRT1441115	hsa-miR-4318	CLIP-seq
MIRT1441116	hsa-miR-4419b	CLIP-seq
MIRT2462007	hsa-miR-4421	CLIP-seq
MIRT1441117	hsa-miR-4455	CLIP-seq
MIRT1441118	hsa-miR-4478	CLIP-seq
MIRT1441120	hsa-miR-4648	CLIP-seq
MIRT1441121	hsa-miR-4654	CLIP-seq
MIRT2462008	hsa-miR-4684-5p	CLIP-seq
MIRT2462009	hsa-miR-4701-3p	CLIP-seq
MIRT2462010	hsa-miR-4715-5p	CLIP-seq
MIRT1441122	hsa-miR-4728-5p	CLIP-seq
MIRT1441123	hsa-miR-4769-5p	CLIP-seq
MIRT2132078	hsa-miR-4793-3p	CLIP-seq
MIRT1441124	hsa-miR-485-5p	CLIP-seq
MIRT2132079	hsa-miR-508-5p	CLIP-seq
MIRT2462011	hsa-miR-548c-3p	CLIP-seq
MIRT2462012	hsa-miR-593	CLIP-seq
MIRT2462013	hsa-miR-609	CLIP-seq
MIRT2132081	hsa-miR-612	CLIP-seq
MIRT2132082	hsa-miR-661	CLIP-seq
MIRT1441126	hsa-miR-663	CLIP-seq
MIRT2132083	hsa-miR-766	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004252	Function	Serine-type endopeptidase activity	NAS	11068177, 11137999
GO:0005044	Function	Scavenger receptor activity	IEA
GO:0005783	Component	Endoplasmic reticulum	HDA	16780588
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	12393794, 17918732
GO:0006508	Process	Proteolysis	NAS	11068177
GO:0006883	Process	Cellular sodium ion homeostasis	IDA	12393794
GO:0006897	Process	Endocytosis	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0016021	Component	Integral component of membrane	NAS	11068177, 11137999
GO:0017080	Function	Sodium channel regulator activity	IDA	12393794
GO:0043025	Component	Neuronal cell body	IEA

Other IDs

• MIM: 605511
• HGNC: 11877
• e!Ensembl: ENSG00000160183

Protein

• UniProt ID: P57727
• Protein name: Transmembrane protease serine 3 (EC 3.4.21.-) (Serine protease TADG-12) (Tumor-associated differentially-expressed gene 12 protein)
• Protein function: Probable serine protease that plays a role in hearing. Acts as a permissive factor for cochlear hair cell survival and activation at the onset of hearing and is required for saccular hair cell survival (By similarity). Activates ENaC (in vitro).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00057	Ldl_recept_a	72 → 107	Low-density lipoprotein receptor domain class A	Repeat
  PF15494	SRCR_2	112 → 211	Scavenger receptor cysteine-rich domain	Domain
  PF00089	Trypsin	217 → 444	Trypsin	Domain

• Sequence:

  MGENDPPAVEAPFSFRSLFGLDDLKISPVAPDADAVAAQILSLLPLKFFPIIVIGIIALI
  LALAIGLGIHFDCSGKYRCRSSFKCIELIARCDGVSDCKDGEDEYRCVRVGGQNAVLQVF
  TAASWKTMCSDDWKGHYANVACAQLGFPSYVSSDNLRVSSLEGQFREEFVSIDHLLPDDK
  VTALHHSVYVREGCASGHVVTLQCTACGHRRGYSSRIVGGNMSLLSQWPWQASLQFQGYH
  LCGGSVITPLWIITAAHCVYDLYLPKSWTIQVGLVSLLDNPAPSHLVEKIVYHSKYKPKR
  LGNDIALMKLAGPLTFNEMIQPVCLPNSEENFPDGKVCWTSGWGATEDGAGDASPVLNHA
  AVPLISNKICNHRDVYGGIISPSMLCAGYLTGGVDSCQGDSGGPLVCQERRLWKLVGATS
  FGIGCAEVNKPGVYTRVTSFLDWIHEQMERDLKT

• Sequence length: 454

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Deafness	DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8	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	26036852, 16283880, 21786053, 11462234, 23958653, 11424922, 15447792, 11907649, 19170735, 16021470, 22975204, 28246597, 17551081, 12393794, 23255163, 21534946, 24526180
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	12393794, 21454591, 11907649, 28695016, 11137999, 23255163, 26036852, 25474651

Unknown
Disease name	Disease term	dbSNP ID	References
Movement disorders	Movement Disorders		21786053, 26036852, 12920079, 17981648, 28263784, 26408194
Non-syndromic sensorineural deafness	Autosomal recessive non-syndromic sensorineural deafness type DFNB