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: 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: rs757490496
rs757490496 		1.000 0.120 16 56865419 missense variant G/C snv 6.4E-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 0.700 0
dbSNP: rs763210286
rs763210286 		1.000 0.120 16 56865437 missense variant G/A snv 2.0E-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 0.700 1.000 17 1996 2015
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: 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: 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: rs1555499151
rs1555499151 		1.000 0.120 16 56865506 missense variant T/C 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 0
dbSNP: rs1555499234
rs1555499234 		1.000 0.120 16 56867070 frameshift variant C/- del
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: 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: rs749742102
rs749742102 		1.000 0.120 16 56867190 missense variant C/T snv 5.7E-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 0.700 1.000 17 1996 2015
dbSNP: rs148945966
rs148945966 		1.000 0.120 16 56868300 missense variant C/A;T snv 4.0E-06; 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 0
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: 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: rs779074538
rs779074538 		1.000 0.120 16 56868324 missense variant G/A snv 6.4E-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 0.700 1.000 17 1996 2015
dbSNP: rs748547209
rs748547209 		1.000 0.120 16 56868327 missense variant A/T snv 1.6E-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 0.700 0
dbSNP: rs775047246
rs775047246 		1.000 0.120 16 56868337 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 17 1996 2015
dbSNP: rs1274973729
rs1274973729 		1.000 0.120 16 56868340 missense variant G/A snv 4.0E-06 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 0.700 1.000 17 1996 2015
dbSNP: rs267607050
rs267607050 		1.000 0.120 16 56868355 missense variant C/T 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 0.700 1.000 18 1996 2015
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: rs201555148
rs201555148 		1.000 0.120 16 56869728 splice acceptor variant G/A snv 5.2E-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 0.700 0
dbSNP: rs757792232
rs757792232 		1.000 0.120 16 56869737 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 17 1996 2015
dbSNP: rs772589653
rs772589653 		1.000 0.120 16 56869756 missense variant C/T snv 1.6E-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 0.700 0
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: rs759426055
rs759426055 		1.000 0.120 16 56869780 missense variant G/A;C snv 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 0.700 1.000 17 1996 2015
dbSNP: rs1231715433
rs1231715433 		1.000 0.120 16 56869798 missense variant T/C 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