SLC12A3, solute carrier family 12 member 3, 6559

N. diseases: 170; N. variants: 31
Source: BEFREE ×
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 3 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 2 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 2 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 1 1996 2018
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 1 1996 2016
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 1 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 1 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 1 1996 2015
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: rs11643718
rs11643718 		0.807 0.240 16 56899607 missense variant G/A snv 0.11 8.4E-02
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.070 1.000 7 2003 2019
dbSNP: rs11643718
rs11643718 		0.807 0.240 16 56899607 missense variant G/A snv 0.11 8.4E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.040 1.000 4 2005 2019
dbSNP: rs11643718
rs11643718 		0.807 0.240 16 56899607 missense variant G/A snv 0.11 8.4E-02
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.030 0.667 3 2008 2012
dbSNP: rs11643718
rs11643718 		0.807 0.240 16 56899607 missense variant G/A snv 0.11 8.4E-02
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2003 2016
dbSNP: rs11643718
rs11643718 		0.807 0.240 16 56899607 missense variant G/A snv 0.11 8.4E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.020 1.000 2 2008 2018
dbSNP: rs11643718
rs11643718 		0.807 0.240 16 56899607 missense variant G/A snv 0.11 8.4E-02
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs11643718
rs11643718 		0.807 0.240 16 56899607 missense variant G/A snv 0.11 8.4E-02
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
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: rs12708965
rs12708965 		1.000 0.040 16 56902407 missense variant C/T snv 3.1E-02 3.5E-02
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs13306673
rs13306673 		1.000 0.040 16 56867019 intron variant C/T snv 0.10 0.13
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1529927
rs1529927 		1.000 0.040 16 56870675 missense variant C/G snv 1.6E-05; 0.98 0.98
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2004 2004
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: rs2399594
rs2399594 		16 56912285 intron variant A/G snv 0.39
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015