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SLC12A3 (solute carrier family 12 member 3)

Gene

6559

Solute carrier family 12 member 3

SLC12A3

NCC, NCCT, TSC

16q13

This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman s

Show/Hide all(78)

SNP ID	Visualize variation	Clinical significance	Consequence
rs13306668	G>A,C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs28936387	T>C	Pathogenic	Missense variant, coding sequence variant
rs28936388	C>T	Pathogenic	Missense variant, coding sequence variant
rs34803727	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121909379	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121909380	G>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs121909382	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs121909383	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121909384	G>T	Pathogenic	Coding sequence variant, missense variant
rs121909385	T>C	Pathogenic	Coding sequence variant, missense variant
rs138977195	G>A	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs139743444	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs140012781	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs140551719	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs142679083	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs145337602	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs146158333	C>A,G,T	Pathogenic	Coding sequence variant, missense variant
rs146632606	G>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs147200024	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs147901432	G>A	Pathogenic	Coding sequence variant, missense variant
rs148038173	C>T	Pathogenic	Coding sequence variant, missense variant
rs185927948	T>A	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs199849117	G>A	Pathogenic	Missense variant, coding sequence variant
rs200697179	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs200817545	A>C,G,T	Pathogenic	Missense variant, coding sequence variant
rs201255508	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs201555148	G>A	Pathogenic	Splice acceptor variant
rs201945662	G>A,C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs267607050	C>T	Pathogenic	Missense variant, coding sequence variant
rs267607051	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs369360334	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs370175770	G>A	Pathogenic	Missense variant, coding sequence variant
rs371443644	C>T	Pathogenic	Missense variant, coding sequence variant
rs373899077	C>T	Pathogenic	Missense variant, coding sequence variant
rs373901523	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs374055486	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs374163823	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs374182921	C>G,T	Pathogenic	Intron variant
rs374324018	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs377456965	A>C	Likely-pathogenic	Splice acceptor variant, intron variant
rs568513106	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs747139582	C>A,T	Likely-benign, pathogenic	Synonymous variant, stop gained, coding sequence variant
rs748547209	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs749098014	G>T	Pathogenic	Splice donor variant
rs750710315	CA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs751409326	C>A	Pathogenic	Stop gained, coding sequence variant
rs752101663	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs753523115	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs754220610	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs754378340	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs755560627	G>T	Pathogenic	Splice acceptor variant
rs758035631	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs759377924	G>A	Pathogenic	Missense variant, coding sequence variant
rs759426055	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs759801838	GTACTG>-	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant
rs764220175	T>C	Likely-pathogenic	Splice donor variant
rs768527231	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs770513014	->TC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs771701344	ACCAAGT>-	Pathogenic	Coding sequence variant, frameshift variant
rs775931992	C>T	Pathogenic	Coding sequence variant, missense variant
rs779160677	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs780299444	->CC	Pathogenic	Coding sequence variant, frameshift variant
rs886039753	C>T	Pathogenic	Stop gained, coding sequence variant
rs886039754	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs886041108	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064793879	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1215667472	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1274973729	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1347239469	G>C,T	Pathogenic	Splice donor variant
rs1366655422	G>A	Pathogenic	Stop gained, coding sequence variant
rs1441228030	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555499123	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555499151	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555499234	C>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555501437	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555501632	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1596883431	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1596890176	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all(100)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017508	hsa-miR-335-5p	Microarray	18185580
MIRT708972	hsa-miR-4780	HITS-CLIP	19536157
MIRT708971	hsa-miR-6780b-3p	HITS-CLIP	19536157
MIRT708970	hsa-miR-136-5p	HITS-CLIP	19536157
MIRT708969	hsa-miR-4469	HITS-CLIP	19536157
MIRT708968	hsa-miR-7113-3p	HITS-CLIP	19536157
MIRT708967	hsa-miR-4287	HITS-CLIP	19536157
MIRT708966	hsa-miR-4685-3p	HITS-CLIP	19536157
MIRT708965	hsa-miR-623	HITS-CLIP	19536157
MIRT708964	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT708963	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT708962	hsa-miR-6867-3p	HITS-CLIP	19536157
MIRT708961	hsa-miR-676-3p	HITS-CLIP	19536157
MIRT708960	hsa-miR-629-3p	HITS-CLIP	19536157
MIRT708959	hsa-miR-2355-3p	HITS-CLIP	19536157
MIRT444616	hsa-miR-5680	PAR-CLIP	22100165
MIRT444615	hsa-miR-4329	PAR-CLIP	22100165
MIRT444614	hsa-miR-4524a-3p	PAR-CLIP	22100165
MIRT444613	hsa-miR-1273e	PAR-CLIP	22100165
MIRT444616	hsa-miR-5680	PAR-CLIP	22100165
MIRT444615	hsa-miR-4329	PAR-CLIP	22100165
MIRT444614	hsa-miR-4524a-3p	PAR-CLIP	22100165
MIRT444613	hsa-miR-1273e	PAR-CLIP	22100165
MIRT708972	hsa-miR-4780	HITS-CLIP	19536157
MIRT708971	hsa-miR-6780b-3p	HITS-CLIP	19536157
MIRT708970	hsa-miR-136-5p	HITS-CLIP	19536157
MIRT708969	hsa-miR-4469	HITS-CLIP	19536157
MIRT708968	hsa-miR-7113-3p	HITS-CLIP	19536157
MIRT708967	hsa-miR-4287	HITS-CLIP	19536157
MIRT708966	hsa-miR-4685-3p	HITS-CLIP	19536157
MIRT708965	hsa-miR-623	HITS-CLIP	19536157
MIRT708964	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT708963	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT708962	hsa-miR-6867-3p	HITS-CLIP	19536157
MIRT708961	hsa-miR-676-3p	HITS-CLIP	19536157
MIRT708960	hsa-miR-629-3p	HITS-CLIP	19536157
MIRT708959	hsa-miR-2355-3p	HITS-CLIP	19536157
MIRT444616	hsa-miR-5680	PAR-CLIP	22100165
MIRT444615	hsa-miR-4329	PAR-CLIP	22100165
MIRT444614	hsa-miR-4524a-3p	PAR-CLIP	22100165
MIRT444613	hsa-miR-1273e	PAR-CLIP	22100165
MIRT444616	hsa-miR-5680	PAR-CLIP	22100165
MIRT444615	hsa-miR-4329	PAR-CLIP	22100165
MIRT444614	hsa-miR-4524a-3p	PAR-CLIP	22100165
MIRT444613	hsa-miR-1273e	PAR-CLIP	22100165
MIRT1351987	hsa-miR-1285	CLIP-seq
MIRT1351988	hsa-miR-1301	CLIP-seq
MIRT1351989	hsa-miR-1303	CLIP-seq
MIRT1351990	hsa-miR-3187-5p	CLIP-seq
MIRT1351991	hsa-miR-3614-5p	CLIP-seq
MIRT1351992	hsa-miR-3914	CLIP-seq
MIRT1351993	hsa-miR-4293	CLIP-seq
MIRT1351994	hsa-miR-4660	CLIP-seq
MIRT1351995	hsa-miR-4680-5p	CLIP-seq
MIRT1351996	hsa-miR-4698	CLIP-seq
MIRT1351997	hsa-miR-502-5p	CLIP-seq
MIRT1351998	hsa-miR-5047	CLIP-seq
MIRT1351999	hsa-miR-5096	CLIP-seq
MIRT1352000	hsa-miR-558	CLIP-seq
MIRT1352001	hsa-miR-596	CLIP-seq
MIRT1352002	hsa-miR-612	CLIP-seq
MIRT1352003	hsa-miR-651	CLIP-seq
MIRT1352004	hsa-miR-661	CLIP-seq
MIRT1351988	hsa-miR-1301	CLIP-seq
MIRT1351989	hsa-miR-1303	CLIP-seq
MIRT1351997	hsa-miR-502-5p	CLIP-seq
MIRT1351998	hsa-miR-5047	CLIP-seq
MIRT1553708	hsa-miR-3665	CLIP-seq
MIRT1553709	hsa-miR-4268	CLIP-seq
MIRT1553710	hsa-miR-657	CLIP-seq
MIRT2104308	hsa-miR-205	CLIP-seq
MIRT2104309	hsa-miR-3122	CLIP-seq
MIRT2104310	hsa-miR-3689a-3p	CLIP-seq
MIRT2104311	hsa-miR-3689c	CLIP-seq
MIRT2104312	hsa-miR-3913-5p	CLIP-seq
MIRT2104313	hsa-miR-4428	CLIP-seq
MIRT2104314	hsa-miR-508-5p	CLIP-seq
MIRT2328623	hsa-miR-24	CLIP-seq
MIRT2104309	hsa-miR-3122	CLIP-seq
MIRT2328624	hsa-miR-3124-3p	CLIP-seq
MIRT2104312	hsa-miR-3913-5p	CLIP-seq
MIRT2328625	hsa-miR-4284	CLIP-seq
MIRT2328626	hsa-miR-587	CLIP-seq
MIRT2394610	hsa-miR-1293	CLIP-seq
MIRT2104309	hsa-miR-3122	CLIP-seq
MIRT2104310	hsa-miR-3689a-3p	CLIP-seq
MIRT2104311	hsa-miR-3689c	CLIP-seq
MIRT2104312	hsa-miR-3913-5p	CLIP-seq
MIRT2394611	hsa-miR-4483	CLIP-seq
MIRT2623125	hsa-miR-1226	CLIP-seq
MIRT2623126	hsa-miR-3591-3p	CLIP-seq
MIRT2623127	hsa-miR-3675-3p	CLIP-seq
MIRT2623128	hsa-miR-4684-5p	CLIP-seq
MIRT2623129	hsa-miR-505	CLIP-seq
MIRT2623125	hsa-miR-1226	CLIP-seq
MIRT2623126	hsa-miR-3591-3p	CLIP-seq
MIRT2623127	hsa-miR-3675-3p	CLIP-seq
MIRT2623128	hsa-miR-4684-5p	CLIP-seq
MIRT2623129	hsa-miR-505	CLIP-seq
MIRT2690828	hsa-miR-548c-3p	CLIP-seq

Show/Hide all(24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	22406640
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	TAS	8670281
GO:0006811	Process	Ion transport	TAS
GO:0006814	Process	Sodium ion transport	ISS
GO:0006884	Process	Cell volume homeostasis	IBA	21873635
GO:0008511	Function	Sodium:potassium:chloride symporter activity	IBA	21873635
GO:0015081	Function	Sodium ion transmembrane transporter activity	ISS
GO:0015378	Function	Sodium:chloride symporter activity	TAS
GO:0015379	Function	Potassium:chloride symporter activity	IBA	21873635
GO:0016020	Component	Membrane	TAS	8670281
GO:0016324	Component	Apical plasma membrane	IBA	21873635
GO:0016324	Component	Apical plasma membrane	IDA	21397062
GO:0016324	Component	Apical plasma membrane	ISS
GO:0035725	Process	Sodium ion transmembrane transport	IBA	21873635
GO:0035725	Process	Sodium ion transmembrane transport	ISS
GO:0055064	Process	Chloride ion homeostasis	IBA	21873635
GO:0055075	Process	Potassium ion homeostasis	IBA	21873635
GO:0055078	Process	Sodium ion homeostasis	IBA	21873635
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070062	Component	Extracellular exosome	IDA	21082674
GO:1902476	Process	Chloride transmembrane transport	IBA	21873635
GO:1990573	Process	Potassium ion import across plasma membrane	IBA	21873635

MIM	HGNC	e!Ensembl
600968	10912	ENSG00000070915

Protein

UniProt ID

P55017

Protein name

Solute carrier family 12 member 3 (Na-Cl cotransporter) (NCC) (Na-Cl symporter) (Thiazide-sensitive sodium-chloride cotransporter)

Protein function

Electroneutral sodium and chloride ion cotransporter, which acts as a key mediator of sodium and chloride reabsorption in kidney distal convoluted tubules (PubMed:18270262, PubMed:21613606, PubMed:22009145, PubMed:36351028, PubMed:36792826). Als

PDB

7Y6I , 7YG0 , 7YG1 , 8FHN , 8FHO , 8FHP , 8FHQ , 8FHR , 8FHT

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08403	AA_permease_N	45 → 116	Amino acid permease N-terminal	Family
PF00324	AA_permease	141 → 647	Amino acid permease	Family
PF03522	SLC12	655 → 810	Solute carrier family 12	Family
PF03522	SLC12	795 → 1020	Solute carrier family 12	Family

Sequence

MAELPTTETPGDATLCSGRFTISTLLSSDEPSPPAAYDSSHPSHLTHSSTFCMRTFGYNT
IDVVPTYEHYANSTQPGEPRKVRPTLADLHSFLKQEGRHLHALAFDSRPSHEMTDGLVEG
EAGTSSEKNPEEPVRFGWVKGVMIRCMLNIWGVILYLRLPWITAQAGIVLTWIIILLSVT
VTSITGLSISAISTNGKVKSGGTYFLISRSLGPELGGSIGLIFAFANAVGVAMHTVGFAE
TVRDLLQEYGAPIVDPINDIRIIAVVSVTVLLAISLAGMEWESKAQVLFFLVIMVSFANY
LVGTLIPPSEDKASKGFFSYRADIFVQNLVPDWRGPDGTFFGMFSIFFPSATGILAGANI
SGDLKDPAIAIPKGTLMAIFWTTISYLAISATIGSCVVRDASGVLNDTVTPGWGACEGLA
CSYGWNFTECTQQHSCHYGLINYYQTMSMVSGFAPLITAGIFGATLSSALACLVSAAKVF
QCLCEDQLYPLIGFFGKGYGKNKEPVRGYLLAYAIAVAFIIIAELNTIAPIISNFFLCSY
ALINFSCFHASITNSPGWRPSFQYYNKWAALFGAIISVVIMFLLTWWAALIAIGVVLFLL
LYVIYKKPEVNWGSSVQAGSYNLALSYSVGLNEVEDHIKNYRPQCLVLTGPPNFRPALVD
FVGTFTRNLSLMICGHVLIGPHKQRMPELQLIANGHTKWLNKRKIKAFYSDVIAEDLRRG
VQILMQAAGLGRMKPNILVVGFKKNWQSAHPATVEDYIGILHDAFDFNYGVCVMRMREGL
NVSKMMQAHINPVFDPAEDGKEASARVDPKALVKEEQATTIFQSEQGKKTIDIYWLFDDG
GLTLLIPYLLGRKRRWSKCKIRVFVGGQINRMDQERKAIISLLSKFRLGFHEVHILPDIN
QNPRAEHTKRFEDMIAPFRLNDGFKDEATVNEMRRDCPWKISDEEITKNRVKSLRQVRLN
EIVLDYSRDAALIVITLPIGRKGKCPSSLYMAWLETLSQDLRPPVILIRGNQENVLTFYC
Q

Sequence length

1021

Interactions

View interactions

	KEGG		Reactome
	Parathyroid hormone synthesis, secretion and action		Cation-coupled Chloride cotransporters Defective SLC12A3 causes Gitelman syndrome (GS)

Associated diseases

Show/Hide Causal Diseases (10)

Causal
Disease name	Disease term	dbSNP ID	References
Bartter syndrome	Bartter Disease	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
Chondrocalcinosis	Calcium pyrophosphate deposition disease	rs121908405, rs28939080, rs121908407, rs2126640512, rs121908408, rs121908409, rs121908410
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent, Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261
Fanconi syndrome	Adult Fanconi syndrome	rs398124646
Hypertension	Hypertensive disease	rs13306026, rs13333226	18480177
Hypomagnesemia	Hypomagnesemia 2, renal	rs118203979, rs118203980, rs118203981, rs104893720, rs104893721, rs104893722, rs104893723, rs104893724, rs104893725, rs104893727, rs104893728, rs104893729, rs104893730, rs104893731, rs104893732, rs121908543, rs121909379, rs28936387, rs28936388, rs755560627, rs121909380, rs1347239469, rs121909382, rs121909383, rs2144723103, rs121909384, rs121909385, rs267607050, rs121918067, rs387906880, rs371443644, rs786205909, rs786205910, rs794726858, rs138977195, rs568513106, rs185927948, rs886041108, rs201255508, rs374163823, rs147901432, rs199974259, rs13306668, rs200697179, rs200817545, rs140012781, rs202114767, rs749098014, rs373899077, rs1553809654, rs201555148, rs140551719, rs775931992, rs771701344, rs199849117, rs1555499234, rs759801838, rs1555499151, rs1555501632, rs765256758, rs1253995767, rs138308105, rs1557551678, rs779160677, rs752101663, rs759426055, rs1563974797, rs759377924, rs1366655422, rs754378340, rs34803727, rs370175770, rs1557785499, rs1557785503, rs781629728, rs1570980551, rs768527231, rs201945662, rs145337602, rs1596890176, rs139743444, rs780299444, rs1596883431, rs751409326, rs1274973729, rs146158333, rs747139582, rs753523115, rs148038173, rs374182921, rs761242621, rs751959432, rs1577430815, rs758035631, rs369360334, rs374055486, rs750710315, rs770513014, rs758683818, rs746818109, rs747249619, rs771326058, rs746623621, rs781209989, rs772241737
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315	21865292
Mitochondrial encephalopathy	Mitochondrial encephalopathy	rs199474671, rs199474672, rs776019250, rs35135520
Parathyroid adenoma	Parathyroid Adenoma	rs587776557
Ventricular fibrillation	Ventricular Fibrillation	rs137854604, rs587782933, rs190140598

Show/Hide Unknown Diseases (21)

Unknown
Disease name	Disease term	dbSNP ID	References
Conn syndrome	Conn Syndrome
Diabetic ketoacidosis	Diabetic Ketoacidosis
Focal seizures	Focal seizures, afebril
Gitelman syndrome	Gitelman Syndrome		10988270, 22990302, 11168953, 8900229, 22009145, 12112667, 22169961, 9734597, 12008755, 15069170, 26099046, 10616841, 11940055, 10561751, 15687331, 8528245, 16429844, 17654016, 17873326, 8954067
Glomerulosclerosis	Focal glomerulosclerosis
Gout	Gout
Graves disease	Graves Disease
Hashimoto disease	Hashimoto Disease
Hypermagnesemia	Hypermagnesemia
Hypokalemia	Hypokalemic alkalosis
Iron deficiency anemia	Iron deficiency anemia
Metabolic alkalosis	Metabolic alkalosis
Nephritis	Nephritis, Interstitial, Nephritis, Tubulointerstitial
Nocturia	Nocturia
Pancreatic neoplasm	Pancreatic Neoplasm
Pericardial effusion	Pericardial effusion
Raynaud phenomenon	Raynaud Phenomenon
Renal glomerular disease	Renal glomerular disease
Scleroderma	Scleroderma, Systemic Scleroderma
Vascular diseases	Vascular Diseases		23348737
Vulval varices	Varicosity

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