BSND (barttin CLCNK type accessory subunit beta)

Gene

• Entrez ID: 7809
• Gene name: Barttin CLCNK type accessory subunit beta
• Gene symbol: BSND
• Synonyms (NCBI Gene): BART, DFNB73
• Chromosome: 1
• Chromosome location: 1p32.3
• Summary: This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Ba

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs74315284	A>T	Pathogenic	Missense variant, initiator codon variant
rs74315285	C>T	Pathogenic	Missense variant, coding sequence variant
rs74315286	G>A	Likely-pathogenic	Missense variant, initiator codon variant
rs74315287	G>A	Pathogenic	Missense variant, coding sequence variant
rs74315288	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs74315289	G>A	Pathogenic	Missense variant, coding sequence variant
rs121908144	T>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121908145	G>A,C,T	Uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant
rs141403253	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs143711308	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs147394986	C>T	Conflicting-interpretations-of-pathogenicity	Stop gained, coding sequence variant
rs150426464	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201342416	A>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs754819005	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs765135576	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs771232166	G>A,C,T	Pathogenic	Stop gained, missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT669337	hsa-miR-6849-3p	HITS-CLIP	19536157
MIRT722313	hsa-miR-1295a	HITS-CLIP	19536157
MIRT619071	hsa-miR-136-5p	HITS-CLIP	19536157
MIRT619070	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT619069	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT619068	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT619067	hsa-miR-3120-5p	HITS-CLIP	19536157
MIRT619066	hsa-miR-6895-3p	HITS-CLIP	19536157
MIRT619065	hsa-miR-593-3p	HITS-CLIP	19536157
MIRT619064	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT619063	hsa-miR-6888-3p	HITS-CLIP	19536157
MIRT619062	hsa-miR-6818-3p	HITS-CLIP	19536157
MIRT669339	hsa-miR-3614-3p	HITS-CLIP	23824327
MIRT669338	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT669337	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT669336	hsa-miR-2114-3p	HITS-CLIP	23824327
MIRT669335	hsa-miR-6823-3p	HITS-CLIP	23824327
MIRT669333	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT669334	hsa-miR-7977	HITS-CLIP	23824327
MIRT669332	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT669331	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT669330	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT669329	hsa-miR-3942-3p	HITS-CLIP	23824327
MIRT669328	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT619071	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT619070	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT619069	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT619068	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT619067	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT619066	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT619065	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT619064	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT619063	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT619062	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT669337	hsa-miR-6849-3p	PAR-CLIP	27292025
MIRT669337	hsa-miR-6849-3p	HITS-CLIP	19536157
MIRT722313	hsa-miR-1295a	HITS-CLIP	19536157
MIRT619071	hsa-miR-136-5p	HITS-CLIP	19536157
MIRT619070	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT619069	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT619068	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT619067	hsa-miR-3120-5p	HITS-CLIP	19536157
MIRT619066	hsa-miR-6895-3p	HITS-CLIP	19536157
MIRT619065	hsa-miR-593-3p	HITS-CLIP	19536157
MIRT619064	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT619063	hsa-miR-6888-3p	HITS-CLIP	19536157
MIRT619062	hsa-miR-6818-3p	HITS-CLIP	19536157
MIRT669339	hsa-miR-3614-3p	HITS-CLIP	23824327
MIRT669338	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT669337	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT669336	hsa-miR-2114-3p	HITS-CLIP	23824327
MIRT669335	hsa-miR-6823-3p	HITS-CLIP	23824327
MIRT669333	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT669334	hsa-miR-7977	HITS-CLIP	23824327
MIRT669332	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT669331	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT669330	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT669329	hsa-miR-3942-3p	HITS-CLIP	23824327
MIRT669328	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT619071	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT619070	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT619069	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT619068	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT619067	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT619066	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT619065	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT619064	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT619063	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT619062	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT826133	hsa-miR-15a	CLIP-seq
MIRT826134	hsa-miR-15b	CLIP-seq
MIRT826135	hsa-miR-16	CLIP-seq
MIRT826136	hsa-miR-195	CLIP-seq
MIRT826137	hsa-miR-214	CLIP-seq
MIRT826138	hsa-miR-3180-5p	CLIP-seq
MIRT826139	hsa-miR-3619-5p	CLIP-seq
MIRT826140	hsa-miR-424	CLIP-seq
MIRT826141	hsa-miR-4291	CLIP-seq
MIRT826142	hsa-miR-497	CLIP-seq
MIRT826143	hsa-miR-520a-5p	CLIP-seq
MIRT826144	hsa-miR-525-5p	CLIP-seq
MIRT826145	hsa-miR-761	CLIP-seq
MIRT826146	hsa-miR-922	CLIP-seq
MIRT2384891	hsa-miR-3678-3p	CLIP-seq
MIRT2384892	hsa-miR-450b-5p	CLIP-seq
MIRT2384893	hsa-miR-507	CLIP-seq
MIRT2384894	hsa-miR-557	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005254	Function	Chloride channel activity	ISS
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0005887	Component	Integral component of plasma membrane	ISS
GO:0006821	Process	Chloride transport	IBA	21873635
GO:0016323	Component	Basolateral plasma membrane	IBA	21873635
GO:0016323	Component	Basolateral plasma membrane	ISS
GO:0017081	Function	Chloride channel regulator activity	IBA	21873635
GO:0032991	Component	Protein-containing complex	ISS
GO:0034220	Process	Ion transmembrane transport	TAS
GO:1902476	Process	Chloride transmembrane transport	IEA

Other IDs

• MIM: 606412
• HGNC: 16512
• e!Ensembl: ENSG00000162399

Protein

• UniProt ID: Q8WZ55
• Protein name: Barttin
• Protein function: Regulatory subunit of anion-selective CLCNKA:BSND and CLCNKB:BSND heteromeric channels involved in basolateral chloride conductance along the nephron to achieve urine concentration and maintain systemic acid-base homeostasis, and in the stria va
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15462	Barttin	27 → 251	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed primarily in kidney. Expressed in specific nephron segments and in the stria vascularis of the inner ear. {ECO:0000269|PubMed:11687798}.
• Sequence:

  MADEKTFRIGFIVLGLFLLALGTFLMSHDRPQVYGTFYAMGSVMVIGGIIWSMCQCYPKI
  TFVPADSDFQGILSPKAMGLLENGLAAEMKSPSPQPPYVRLWEEAAYDQSLPDFSHIQMK
  VMSYSEDHRSLLAPEMGQPKLGTSDGGEGGPGDVQAWMEAAVVIHKGSDESEGERRLTQS
  WPGPLACPQGPAPLASFQDDLDMDSSEGSSPNASPHDREEACSPQQEPQGCRCPLDRFQD
  FALIDAPTLEDEPQEGQQWEIALPNNWQRYPRTKVEEKEASDTGGEEPEKEEEDLYYGLP
  DGAGDLLPDKELGFEPDTQG

• Sequence length: 320

Pathways

Reactome:

Stimuli-sensing channels

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Bartter syndrome	Bartter Disease, BARTTER SYNDROME, TYPE 4A	rs74315284, rs74315285, rs1389952796, rs74315286, rs74315287, rs74315288, rs74315289, rs121908144, rs121908145, rs121909137, rs121909138, rs121909131, rs121909132, rs121909133, rs121909134, rs121909135, rs779908241, rs121909136, rs104893706, rs137853158, rs137853159, rs774515747, rs1057519608, rs104894244, rs2135941091, rs104894245, rs104894253, rs104894254, rs104894250, rs104894251, rs397514729, rs863224858, rs765347751, rs878854404, rs878854405, rs878854406, rs878854407, rs875989852, rs886039870, rs779588655, rs201707868, rs1057516207, rs185212943, rs1057520300, rs1057520301, rs1057520302, rs1057520303, rs1057520304, rs370221310, rs779593707, rs377205432, rs1555466999, rs953686324, rs768286324, rs746509804, rs771232166, rs1566857461, rs373367600, rs1159737562, rs769554073, rs1570334344, rs201781905, rs377215024, rs755714542, rs1570340095, rs1570341086, rs1180658535, rs764247288, rs865973286, rs1007109925, rs1411280373, rs1380025163, rs758961147	18776122, 9463315, 27234911, 12574213, 23110775, 18833191, 24902942, 21269598, 26537508, 16583241, 12761627, 19096086, 12111250, 11734858, 11687798, 16572343, 16935888, 16328537
Bartter syndrome with sensorineural deafness	Infantile Bartter syndrome with sensorineural deafness	rs1191726071
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
Hydrops fetalis	Hydrops Fetalis	rs28935477, rs1131691986
Hyperaldosteronism	Hyperaldosteronism	rs28934586, rs104894068, rs387906778, rs386352319, rs587777437, rs587777438, rs587777439, rs786205050, rs771507094, rs1085307938, rs1553853557, rs1553856214, rs1293789661, rs1553857113, rs758379595
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
Renal insufficiency	Renal Insufficiency	rs1596536873

Unknown
Disease term	Disease name	Evidence	References	Source
Deafness	hearing loss, autosomal recessive			GenCC
Coronary artery disease	Coronary artery disease			GWAS
Myocardial Infarction	Myocardial Infarction			GWAS
Coronary Heart Disease	Coronary Heart Disease			GWAS
Diabetes	Diabetes			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenolymphoma	Associate	28470573
Adenoma Oxyphilic	Stimulate	28470573
Bartter Syndrome	Associate	15167890, 16583241, 19646679, 28334417
Bartter syndrome type 3	Associate	16583241, 19646679, 21541222, 26537508, 29674316
Carcinoma Renal Cell	Associate	26091477, 28470573
Deafness	Associate	15167890, 19646679, 21541222, 24949729
Hearing Loss Sensorineural	Associate	16583241, 29674316
Hypertension	Associate	17652939
Kidney Diseases	Associate	19646679, 21541222
Kidney Neoplasms	Associate	28470573
Muscle Hypotonia	Associate	16583241
Nonsyndromic Deafness	Associate	19646679, 21541222
Oncocytoma renal	Associate	26091477, 28470573
Polyhydramnios	Associate	16583241
Renal Insufficiency	Associate	19646679
Salivary Gland Neoplasms	Associate	28470573
Taste Disorders	Associate	29674316