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: 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: 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: 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: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11643718
rs11643718 		0.807 0.240 16 56899607 missense variant G/A snv 0.11 8.4E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
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: 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: rs759377924
rs759377924 		0.882 0.200 16 56879207 missense variant G/A snv 1.6E-04 8.4E-05
CUI: C0033802
Disease: Pseudogout
Pseudogout 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2006 2006
dbSNP: rs759377924
rs759377924 		0.882 0.200 16 56879207 missense variant G/A snv 1.6E-04 8.4E-05
CUI: C0553730
Disease: Calcium pyrophosphate deposition disease
Calcium pyrophosphate deposition disease 		Musculoskeletal Diseases 0.010 1.000 1 2006 2006
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: 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: rs371443644
rs371443644 		0.925 0.160 16 56865414 missense variant C/T snv 5.6E-05 4.2E-05
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs745452033
rs745452033 		0.925 0.160 16 56865465 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs745452033
rs745452033 		0.925 0.160 16 56865465 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs753523115
rs753523115 		0.925 0.160 16 56880142 missense variant G/A snv 2.5E-05 7.0E-06
CUI: C0271790
Disease: Subclinical hypothyroidism
Subclinical hypothyroidism 		Endocrine System Diseases 0.010 1.000 1 2018 2018
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: rs200817545
rs200817545 		0.925 0.160 16 56879168 missense variant A/C;G;T snv 4.0E-06; 1.6E-04
CUI: C0151723
Disease: Hypomagnesemia
Hypomagnesemia 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs200817545
rs200817545 		0.925 0.160 16 56879168 missense variant A/C;G;T snv 4.0E-06; 1.6E-04
CUI: C1846348
Disease: Renal potassium wasting
Renal potassium wasting 		0.700 0
dbSNP: rs200817545
rs200817545 		0.925 0.160 16 56879168 missense variant A/C;G;T snv 4.0E-06; 1.6E-04
CUI: C0020621
Disease: Hypokalemia
Hypokalemia 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs200817545
rs200817545 		0.925 0.160 16 56879168 missense variant A/C;G;T snv 4.0E-06; 1.6E-04
CUI: C0085570
Disease: Hypokalemic alkalosis
Hypokalemic alkalosis 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs200817545
rs200817545 		0.925 0.160 16 56879168 missense variant A/C;G;T snv 4.0E-06; 1.6E-04
CUI: C0020599
Disease: Hypocalciuria
Hypocalciuria 		Nutritional and Metabolic Diseases 0.700 0