SLC12A2, solute carrier family 12 member 2, 6558

N. diseases: 128; N. variants: 7
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: rs3101725
rs3101725 		1.000 0.040 5 128188326 3 prime UTR variant T/C snv 0.83
CUI: C0042345
Disease: Varicosity
Varicosity 		Cardiovascular Diseases 0.700 1.000 2 2018 2019
dbSNP: rs185689480
rs185689480 		5 128186065 intron variant T/A snv 5.2E-03
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs185689480
rs185689480 		5 128186065 intron variant T/A snv 5.2E-03
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs2568928
rs2568928 		5 128151911 intron variant A/G;T snv
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs3812049
rs3812049 		5 128083158 non coding transcript exon variant C/A;G;T snv
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2016 2016
dbSNP: rs3812049
rs3812049 		5 128083158 non coding transcript exon variant C/A;G;T snv
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs3812049
rs3812049 		5 128083158 non coding transcript exon variant C/A;G;T snv
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2016 2016
dbSNP: rs3812049
rs3812049 		5 128083158 non coding transcript exon variant C/A;G;T snv
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		0.700 1.000 1 2019 2019
dbSNP: rs7734927
rs7734927 		5 128118043 intron variant T/A;G snv
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2017 2017
dbSNP: rs7734927
rs7734927 		5 128118043 intron variant T/A;G snv
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2017 2017
dbSNP: rs886040968
rs886040968 		1.000 0.040 5 128178664 frameshift variant GTCTGGTGGCT/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs886040968
rs886040968 		1.000 0.040 5 128178664 frameshift variant GTCTGGTGGCT/- delins
CUI: C1535893
Disease: Orthostatic intolerance
Orthostatic intolerance 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs886040968
rs886040968 		1.000 0.040 5 128178664 frameshift variant GTCTGGTGGCT/- delins
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency 		Digestive System Diseases 0.700 0
dbSNP: rs3087889
rs3087889 		1.000 0.040 5 128189252 3 prime UTR variant T/A snv 0.30
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2014 2014