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: rs1138429
rs1138429 		16 56909009 intron variant A/T snv 8.4E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1138429
rs1138429 		16 56909009 intron variant A/T snv 8.4E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12446275
rs12446275 		16 56895108 intron variant G/C snv 9.5E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs12446689
rs12446689 		16 56904104 intron variant A/G snv 0.13
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12446689
rs12446689 		16 56904104 intron variant A/G snv 0.13
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs13306677
rs13306677 		16 56892283 intron variant G/A snv 8.9E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs13306677
rs13306677 		16 56892283 intron variant G/A snv 8.9E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
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
dbSNP: rs5804
rs5804 		16 56894607 synonymous variant C/T snv 0.13 9.3E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs6499857
rs6499857 		16 56901178 intron variant G/C snv 0.31
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs711746
rs711746 		16 56912892 intron variant T/C;G snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs7187932
rs7187932 		16 56897792 intron variant G/A snv 0.25
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs8056954
rs8056954 		16 56896317 intron variant G/A;T snv
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs8056954
rs8056954 		16 56896317 intron variant G/A;T snv
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs8063291
rs8063291 		16 56896339 intron variant T/C snv 0.21
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
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: rs13306673
rs13306673 		1.000 0.040 16 56867019 intron variant C/T snv 0.10 0.13
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs13306673
rs13306673 		1.000 0.040 16 56867019 intron variant C/T snv 0.10 0.13
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
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: rs7204044
rs7204044 		1.000 0.040 16 56908797 intron variant A/G;T snv
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs745709495
rs745709495 		0.925 0.040 16 56872767 missense variant A/G snv 1.2E-05
CUI: C0271728
Disease: Secondary hyperaldosteronism
Secondary hyperaldosteronism 		Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs745709495
rs745709495 		0.925 0.040 16 56872767 missense variant A/G snv 1.2E-05
CUI: C0740898
Disease: Hypokalemic metabolic alkalosis
Hypokalemic metabolic alkalosis 		0.010 1.000 1 2010 2010
dbSNP: rs772187470
rs772187470 		1.000 0.040 16 56870221 missense variant C/T snv 1.6E-05 2.8E-05
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2004 2004
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