SLITRK6 (SLIT and NTRK like family member 6)

Gene

• Entrez ID: 84189
• Gene name: SLIT and NTRK like family member 6
• Gene symbol: SLITRK6
• Synonyms (NCBI Gene): DFNMYP
• Disease Acronyms (UniProt): DFNMYP
• Chromosome: 13
• Chromosome location: 13q31.1
• Summary: This gene encodes a member of the SLITRK protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with trk neurotrophin re

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs74591375	C>A,T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs587777069	G>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs587777070	G>T	Pathogenic	Stop gained, coding sequence variant
rs587777071	G>A	Pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1369824	hsa-miR-3616-5p	CLIP-seq
MIRT1369825	hsa-miR-3647-5p	CLIP-seq
MIRT1369826	hsa-miR-4643	CLIP-seq
MIRT1369827	hsa-miR-466	CLIP-seq
MIRT1369828	hsa-miR-4789-3p	CLIP-seq
MIRT1369829	hsa-miR-573	CLIP-seq
MIRT2109777	hsa-miR-124	CLIP-seq
MIRT2109778	hsa-miR-3714	CLIP-seq
MIRT2109779	hsa-miR-3910	CLIP-seq
MIRT2109780	hsa-miR-4699-3p	CLIP-seq
MIRT2109781	hsa-miR-4798-3p	CLIP-seq
MIRT2109782	hsa-miR-506	CLIP-seq
MIRT2109783	hsa-miR-603	CLIP-seq
MIRT2109784	hsa-miR-642b	CLIP-seq
MIRT2333129	hsa-miR-1179	CLIP-seq
MIRT2109777	hsa-miR-124	CLIP-seq
MIRT2333130	hsa-miR-1251	CLIP-seq
MIRT2333131	hsa-miR-1279	CLIP-seq
MIRT2333132	hsa-miR-135a	CLIP-seq
MIRT2333133	hsa-miR-135b	CLIP-seq
MIRT2333134	hsa-miR-137	CLIP-seq
MIRT2333135	hsa-miR-150	CLIP-seq
MIRT2333136	hsa-miR-15a	CLIP-seq
MIRT2333137	hsa-miR-15b	CLIP-seq
MIRT2333138	hsa-miR-16	CLIP-seq
MIRT2333139	hsa-miR-183	CLIP-seq
MIRT2333140	hsa-miR-186	CLIP-seq
MIRT2333141	hsa-miR-195	CLIP-seq
MIRT2333142	hsa-miR-199a-3p	CLIP-seq
MIRT2333143	hsa-miR-199b-3p	CLIP-seq
MIRT2333144	hsa-miR-2052	CLIP-seq
MIRT2333145	hsa-miR-216a	CLIP-seq
MIRT2333146	hsa-miR-25	CLIP-seq
MIRT2333147	hsa-miR-27a	CLIP-seq
MIRT2333148	hsa-miR-27b	CLIP-seq
MIRT2333149	hsa-miR-300	CLIP-seq
MIRT2333150	hsa-miR-302f	CLIP-seq
MIRT2333151	hsa-miR-3120-3p	CLIP-seq
MIRT2333152	hsa-miR-3129-5p	CLIP-seq
MIRT2333153	hsa-miR-32	CLIP-seq
MIRT2333154	hsa-miR-33a	CLIP-seq
MIRT2333155	hsa-miR-33b	CLIP-seq
MIRT2333156	hsa-miR-3618	CLIP-seq
MIRT2333157	hsa-miR-363	CLIP-seq
MIRT2333158	hsa-miR-365	CLIP-seq
MIRT2333159	hsa-miR-367	CLIP-seq
MIRT2109778	hsa-miR-3714	CLIP-seq
MIRT2333160	hsa-miR-381	CLIP-seq
MIRT2109779	hsa-miR-3910	CLIP-seq
MIRT2333161	hsa-miR-3942-3p	CLIP-seq
MIRT2333162	hsa-miR-3973	CLIP-seq
MIRT2333163	hsa-miR-410	CLIP-seq
MIRT2333164	hsa-miR-424	CLIP-seq
MIRT2333165	hsa-miR-425	CLIP-seq
MIRT2333166	hsa-miR-4264	CLIP-seq
MIRT2333167	hsa-miR-4282	CLIP-seq
MIRT2333168	hsa-miR-4422	CLIP-seq
MIRT2333169	hsa-miR-450b-5p	CLIP-seq
MIRT2333170	hsa-miR-4659a-5p	CLIP-seq
MIRT2333171	hsa-miR-4659b-5p	CLIP-seq
MIRT2333172	hsa-miR-4666-3p	CLIP-seq
MIRT2333173	hsa-miR-4684-5p	CLIP-seq
MIRT2333174	hsa-miR-4696	CLIP-seq
MIRT2333175	hsa-miR-4698	CLIP-seq
MIRT2109780	hsa-miR-4699-3p	CLIP-seq
MIRT2333176	hsa-miR-4699-5p	CLIP-seq
MIRT2333177	hsa-miR-4713-5p	CLIP-seq
MIRT2333178	hsa-miR-4729	CLIP-seq
MIRT2333179	hsa-miR-4731-3p	CLIP-seq
MIRT2333180	hsa-miR-4797-3p	CLIP-seq
MIRT2109781	hsa-miR-4798-3p	CLIP-seq
MIRT2333181	hsa-miR-4801	CLIP-seq
MIRT2333182	hsa-miR-497	CLIP-seq
MIRT2109782	hsa-miR-506	CLIP-seq
MIRT2333183	hsa-miR-507	CLIP-seq
MIRT2333184	hsa-miR-513a-5p	CLIP-seq
MIRT2333185	hsa-miR-520d-5p	CLIP-seq
MIRT2333186	hsa-miR-520g	CLIP-seq
MIRT2333187	hsa-miR-520h	CLIP-seq
MIRT2333188	hsa-miR-524-5p	CLIP-seq
MIRT2333189	hsa-miR-532-3p	CLIP-seq
MIRT2333190	hsa-miR-554	CLIP-seq
MIRT2333191	hsa-miR-557	CLIP-seq
MIRT2333192	hsa-miR-561	CLIP-seq
MIRT2333193	hsa-miR-584	CLIP-seq
MIRT2109783	hsa-miR-603	CLIP-seq
MIRT2333194	hsa-miR-606	CLIP-seq
MIRT2333195	hsa-miR-624	CLIP-seq
MIRT2333196	hsa-miR-630	CLIP-seq
MIRT2109784	hsa-miR-642b	CLIP-seq
MIRT2333197	hsa-miR-656	CLIP-seq
MIRT2333198	hsa-miR-922	CLIP-seq
MIRT2333199	hsa-miR-92a	CLIP-seq
MIRT2333200	hsa-miR-92b	CLIP-seq
MIRT2333201	hsa-miR-934	CLIP-seq
MIRT2333202	hsa-miR-936	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001964	Process	Startle response	IEA
GO:0002088	Process	Lens development in camera-type eye	IEA
GO:0002093	Process	Auditory receptor cell morphogenesis	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0005887	Component	Integral component of plasma membrane	IDA	23543054
GO:0007409	Process	Axonogenesis	IBA	21873635
GO:0007416	Process	Synapse assembly	IMP	23543054
GO:0007601	Process	Visual perception	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0008344	Process	Adult locomotory behavior	IEA
GO:0009986	Component	Cell surface	IDA	23543054
GO:0021562	Process	Vestibulocochlear nerve development	IEA
GO:0031223	Process	Auditory behavior	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0051965	Process	Positive regulation of synapse assembly	IEA
GO:0060007	Process	Linear vestibuloocular reflex	IEA
GO:0060384	Process	Innervation	IEA
GO:0090102	Process	Cochlea development	IEA
GO:1905606	Process	Regulation of presynapse assembly	IEA

Other IDs

• MIM: 609681
• HGNC: 23503
• e!Ensembl: ENSG00000184564

Protein

• UniProt ID: Q9H5Y7
• Protein name: SLIT and NTRK-like protein 6
• Protein function: Regulator of neurite outgrowth required for normal hearing and vision.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13855	LRR_8	143 → 195	Leucine rich repeat	Repeat
  PF13855	LRR_8	364 → 423	Leucine rich repeat	Repeat
  PF13855	LRR_8	411 → 471	Leucine rich repeat	Repeat
  PF13855	LRR_8	459 → 518	Leucine rich repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: In adult brain, highly expressed in putamen with no expression in cerebral cortex. Expressed in adult and fetal lung and fetal liver. Also expressed at high levels in some brain tumors including medulloblastomas and primitive neuroecto
• Sequence:

  MKLWIHLFYSSLLACISLHSQTPVLSSRGSCDSLCNCEEKDGTMLINCEAKGIKMVSEIS
  VPPSRPFQLSLLNNGLTMLHTNDFSGLTNAISIHLGFNNIADIEIGAFNGLGLLKQLHIN
  HNSLEILKEDTFHGLENLEFLQADNNFITVIEPSAFSKLNRLKVLILNDNAIESLPPNIF
  RFVPLTHLDLRGNQLQTLPYVGFLEHIGRILDLQLEDNKWACNCDLLQLKTWLENMPPQS
  IIGDVVCNSPPFFKGSILSRLKKESICPTPPVYEEHEDPSGSLHLAATSSINDSRMSTKT
  TSILKLPTKAPGLIPYITKPSTQLPGPYCPIPCNCKVLSPSGLLIHCQERNIESLSDLRP
  PPQNPRKLILAGNIIHSLMKSDLVEYFTLEMLHLGNNRIEVLEEGSFMNLTRLQKLYLNG
  NHLTKLSKGMFLGLHNLEYLYLEYNAIKEILPGTFNPMPKLKVLYLNNNLLQVLPPHIFS
  GVPLTKVNLKTNQFTHLPVSNILDDLDLLTQIDLEDNPWDCSCDLVGLQQWIQKLSKNTV
  TDDILCTSPGHLDKKELKALNSEILCPGLVNNPSMPTQTSYLMVTTPATTTNTADTILRS
  LTDAVPLSVLILGLLIMFITIVFCAAGIVVLVLHRRRRYKKKQVDEQMRDNSPVHLQYSM
  YGHKTTHHTTERPSASLYEQHMVSPMVHVYRSPSFGPKHLEEEEERNEKEGSDAKHLQRS
  LLEQENHSPLTGSNMKYKTTNQSTEFLSFQDASSLYRNILEKERELQQLGITEYLRKNIA
  QLQPDMEAHYPGAHEELKLMETLMYSRPRKVLVEQTKNEYFELKANLHAEPDYLEVLEQQ
  T

• Sequence length: 841

Pathways

KEGG:

Cell adhesion molecules

Reactome:

Receptor-type tyrosine-protein phosphatases

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Hearing impairment	Profound hearing impairment	rs111033364, rs28942097, rs121908145, rs121908140, rs111033308, rs80338848, rs111033199, rs74315437, rs137852999, rs28938175, rs104893746, rs104894396, rs104894397, rs80338939, rs104894398, rs80338947, rs80338948, rs80338942, rs80338943, rs80338945, rs72474224, rs80338940, rs104894409, rs267606631, rs1801002, rs281874743, rs80338950, rs111033299, rs111033253, rs104894408, rs111033295, rs76434661, rs111033294, rs374793617, rs147231991, rs181949335, rs188119157, rs147321712, rs587783647, rs587783646, rs143343083, rs587783645, rs104894407, rs727503493, rs368027306, rs184435771, rs371777049, rs1057518840, rs767255075, rs1057519150, rs139805921, rs1060499798, rs1064797115, rs1064797177, rs770042200, rs1461319754, rs1553196233, rs1235751512, rs769260536, rs397517376, rs750130520, rs537227442, rs1485456037, rs748961218, rs1553776135, rs1560070780, rs772852668, rs1567939718, rs1567940507, rs1850678559, rs767270134, rs772048719
Hearing loss	Conductive hearing loss	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
High myopia-sensorineural deafness syndrome	High myopia-sensorineural deafness syndrome	rs587777069, rs587777070, rs587777071
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Myopia	Severe myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023

Unknown
Disease term	Disease name	Evidence	References	Source
Deafness	hearing loss, autosomal recessive			GenCC
Metabolic Syndrome	Metabolic Syndrome			GWAS
Oligodendroglioma	Oligodendroglioma			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Auditory neuropathy	Associate	23946138
Deafness	Associate	33187236
Hair Diseases	Associate	23946138
Hearing Loss	Associate	23946138
Myopia	Associate	23946138
Neoplasms	Associate	26317352
Pulmonary Disease Chronic Obstructive	Associate	30361509
Respiratory Tract Infections	Associate	26317352
Vestibulocochlear Nerve Diseases	Associate	23946138