SLC4A2, solute carrier family 4 member 2, 6522

N. diseases: 35; N. variants: 6
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: rs2069443
rs2069443 		1.000 0.080 7 151058086 intron variant T/G snv 0.32
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2069442
rs2069442 		1.000 0.080 7 151058118 intron variant G/C snv 0.32
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs2069443
rs2069443 		1.000 0.080 7 151058086 intron variant T/G snv 0.32
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2303933
rs2303933 		1.000 0.080 7 151069712 intron variant A/C;G snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2303937
rs2303937 		1.000 0.080 7 151071699 synonymous variant G/A;C snv 0.48; 8.1E-06
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2303941
rs2303941 		1.000 0.080 7 151076200 non coding transcript exon variant T/C snv 3.0E-02 3.8E-02
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs3793336
rs3793336 		1.000 0.080 7 151065784 intron variant G/A;C snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2009 2009