SLC12A3, solute carrier family 12 member 3, 6559

N. diseases: 252; N. variants: 131
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: rs371443644
rs371443644 		0.925 0.160 16 56865414 missense variant C/T snv 5.6E-05 4.2E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.830 1.000 26 1996 2016
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: rs185927948
rs185927948 		1.000 0.120 16 56894555 missense variant T/A snv 6.0E-05 1.4E-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 26 1996 2016
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: 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: rs775931992
rs775931992 		1.000 0.120 16 56879087 missense variant C/T snv 1.2E-05 2.1E-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: rs147901432
rs147901432 		1.000 0.120 16 56885364 missense variant G/A snv 2.8E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 27 1996 2015
dbSNP: rs759377924
rs759377924 		0.882 0.200 16 56879207 missense variant G/A snv 1.6E-04 8.4E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 25 1996 2015
dbSNP: rs373899077
rs373899077 		1.000 0.120 16 56894563 missense variant C/T snv 8.8E-05 1.1E-04
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 24 1996 2016
dbSNP: rs140012781
rs140012781 		1.000 0.120 16 56886366 missense variant C/T snv 1.6E-04 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 0.800 1.000 23 1996 2017
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: rs138977195
rs138977195 		1.000 0.120 16 56887967 missense variant G/A snv 3.7E-04 4.1E-04
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 21 1996 2016
dbSNP: rs121909379
rs121909379 		1.000 0.120 16 56894558 missense variant T/C snv 1.2E-04 1.7E-04
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 19 1996 2016
dbSNP: rs146632606
rs146632606 		1.000 0.120 16 56867150 missense variant G/C snv 9.3E-04 1.0E-03
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 19 1996 2015
dbSNP: rs201255508
rs201255508 		1.000 0.120 16 56865482 missense variant C/T snv 3.2E-05 2.8E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 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: rs28936387
rs28936387 		1.000 0.120 16 56879153 missense variant T/C snv 7.0E-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: rs121909383
rs121909383 		1.000 0.120 16 56872737 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 17 1996 2015
dbSNP: rs34803727
rs34803727 		1.000 0.120 16 56913277 missense variant G/A snv 5.6E-05 4.9E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 17 1996 2015
dbSNP: rs202114767
rs202114767 		1.000 0.120 16 56904402 missense variant G/A snv 1.5E-04 7.7E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 6 1996 2012
dbSNP: rs374163823
rs374163823 		1.000 0.120 16 56879593 missense variant G/A snv 2.8E-05 3.5E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 4 2005 2016
dbSNP: rs768527231
rs768527231 		1.000 0.120 16 56865483 missense variant G/A snv 3.6E-05 3.5E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 4 2011 2011
dbSNP: rs374324018
rs374324018 		1.000 0.120 16 56868301 missense variant G/A snv 1.5E-04 4.9E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 3 2007 2013