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: rs779683214
rs779683214 		1.000 0.120 16 56868364 missense variant C/T snv 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 0.700 0
dbSNP: rs780433336
rs780433336 		1.000 0.120 16 56882429 missense variant A/G snv 4.0E-06 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 0.700 0
dbSNP: rs780502516
rs780502516 		1.000 0.120 16 56865440 missense variant C/A snv 4.0E-06 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 0.700 0
dbSNP: rs780594361
rs780594361 		1.000 0.120 16 56870138 missense variant T/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 0
dbSNP: rs886041108
rs886041108 		1.000 0.120 16 56879543 frameshift variant C/- delins
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 0
dbSNP: rs914588619
rs914588619 		1.000 0.120 16 56870666 missense variant G/A 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 0.700 0
dbSNP: rs148038173
rs148038173 		1.000 0.120 16 56882492 missense variant C/T snv 6.0E-05 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 0.710 1.000 1 2006 2006
dbSNP: rs200817545
rs200817545 		0.925 0.160 16 56879168 missense variant A/C;G;T snv 4.0E-06; 1.6E-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 < 0.001 1 2017 2017
dbSNP: rs753523115
rs753523115 		0.925 0.160 16 56880142 missense variant G/A snv 2.5E-05 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 0.710 1.000 1 2016 2016
dbSNP: rs886039754
rs886039754 		1.000 0.120 16 56885358 missense variant A/G snv 6.3E-06; 1.3E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.710 1.000 1 2018 2018
dbSNP: rs559626481
rs559626481 		1.000 0.120 16 56904401 missense variant C/A;T snv 1.2E-05; 4.0E-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 1 2011 2011
dbSNP: rs748650798
rs748650798 		1.000 0.120 16 56882434 missense variant T/C 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 1 2011 2011
dbSNP: rs79351185
rs79351185 		1.000 0.120 16 56884085 missense variant C/A;T snv 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 0.700 1.000 1 2011 2011
dbSNP: rs11643718
rs11643718 		0.807 0.240 16 56899607 missense variant G/A snv 0.11 8.4E-02
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs201124663
rs201124663 		1.000 0.120 16 56870665 missense variant C/T snv 1.3E-04 7.0E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2006 2006
dbSNP: rs546999572
rs546999572 		1.000 0.120 16 56887044 stop gained C/A;T snv 2.0E-05; 3.6E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs749698843
rs749698843 		1.000 0.120 16 56870725 missense variant T/C snv 3.6E-05 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 0.010 1.000 1 2018 2018
dbSNP: rs777815715
rs777815715 		1.000 0.120 16 56879073 missense variant G/A snv 4.1E-06
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
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
dbSNP: rs568513106
rs568513106 		1.000 0.120 16 56870699 missense variant T/C snv 1.6E-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 3 2008 2016
dbSNP: rs145337602
rs145337602 		1.000 0.120 16 56886384 missense variant C/T snv 4.0E-05 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 0.700 1.000 3 1998 2011
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: 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: 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