SLC12A3, solute carrier family 12 member 3, 6559

N. diseases: 252; N. variants: 131
Disease: Gitelman Syndrome ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs201945662
rs201945662 		1.000 0.120 16 56879596 missense variant G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 22 1996 2015
dbSNP: rs121909382
rs121909382 		1.000 0.120 16 56884142 missense variant C/A;T snv 4.0E-06; 2.4E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.810 1.000 19 1996 2018
dbSNP: rs121909385
rs121909385 		1.000 0.120 16 56885307 missense variant T/C snv 6.1E-06
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.820 1.000 19 1996 2015
dbSNP: rs200697179
rs200697179 		1.000 0.120 16 56885363 missense variant C/G;T snv 2.5E-05; 1.3E-04
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.820 1.000 19 1996 2015
dbSNP: rs28936388
rs28936388 		1.000 0.120 16 56870119 missense variant C/T snv 1.2E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.810 1.000 19 1996 2015
dbSNP: rs121909380
rs121909380 		1.000 0.120 16 56886402 missense variant G/A;T snv 8.0E-05; 8.0E-06; 4.0E-06
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 18 1996 2015
dbSNP: rs121909384
rs121909384 		1.000 0.120 16 56885328 missense variant G/T snv
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 18 1996 2015
dbSNP: rs139329616
rs139329616 		1.000 0.120 16 56884111 missense variant G/A;C snv 6.5E-04
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 18 1996 2015
dbSNP: rs1355705043
rs1355705043 		1.000 0.120 16 56879638 missense variant A/G snv 4.0E-06
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 17 1996 2015
dbSNP: rs1402444800
rs1402444800 		1.000 0.120 16 56884058 missense variant C/A;G snv 8.0E-06
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 17 1996 2015
dbSNP: rs143714318
rs143714318 		1.000 0.120 16 56868317 missense variant T/A;C;G snv 8.0E-06; 2.4E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 17 1996 2015
dbSNP: rs1451284628
rs1451284628 		1.000 0.120 16 56882464 missense variant A/G snv
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 17 1996 2015
dbSNP: rs146158333
rs146158333 		1.000 0.120 16 56869762 missense variant C/A;G;T snv 2.7E-04; 4.0E-06; 1.2E-04
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.710 1.000 17 1996 2015
dbSNP: rs146845953
rs146845953 		1.000 0.120 16 56893003 missense variant T/A;C snv 4.0E-04; 1.6E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 17 1996 2015
dbSNP: rs150046661
rs150046661 		1.000 0.120 16 56872459 missense variant C/A;G;T snv 4.0E-06; 7.6E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 17 1996 2015
dbSNP: rs369510226
rs369510226 		1.000 0.120 16 56880205 missense variant C/A;T snv 7.5E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 17 1996 2015
dbSNP: rs373017321
rs373017321 		1.000 0.120 16 56879630 missense variant C/G snv 8.0E-06
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 17 1996 2015
dbSNP: rs373901523
rs373901523 		1.000 0.120 16 56887932 missense variant G/A;T snv 8.0E-06; 1.0E-04
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 17 1996 2015
dbSNP: rs574357286
rs574357286 		1.000 0.120 16 56882453 missense variant T/C snv 4.0E-06
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 17 1996 2015
dbSNP: rs748575829
rs748575829 		1.000 0.120 16 56878156 missense variant C/T snv 1.6E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 17 1996 2015
dbSNP: rs748920885
rs748920885 		1.000 0.120 16 56872445 missense variant G/C;T snv 1.6E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 17 1996 2015
dbSNP: rs751929135
rs751929135 		1.000 0.120 16 56894564 missense variant G/A snv 8.0E-06
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 17 1996 2015
dbSNP: rs754505583
rs754505583 		1.000 0.120 16 56894593 missense variant C/T snv 8.0E-06
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 17 1996 2015
dbSNP: rs755069436
rs755069436 		1.000 0.120 16 56872409 missense variant C/A;T snv 4.0E-06; 1.2E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 17 1996 2015
dbSNP: rs757761069
rs757761069 		1.000 0.120 16 56887950 missense variant C/A;G snv 4.0E-06; 8.0E-06
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 17 1996 2015