Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs550057
rs550057
ABO
0.925 0.080 9 133271182 intron variant T/A;C snv
Low density lipoprotein cholesterol measurement
0.700 1.000 3 2015 2019
dbSNP: rs550057
rs550057
ABO
0.925 0.080 9 133271182 intron variant T/A;C snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 1.000 2 2018 2019
dbSNP: rs550057
rs550057
ABO
0.925 0.080 9 133271182 intron variant T/A;C snv
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction
0.700 1.000 1 2019 2019
dbSNP: rs550057
rs550057
ABO
0.925 0.080 9 133271182 intron variant T/A;C snv
CUI: C0042834
Disease: Vital capacity
Vital capacity
0.700 1.000 1 2019 2019
dbSNP: rs550057
rs550057
ABO
0.925 0.080 9 133271182 intron variant T/A;C snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.700 1.000 1 2019 2019
dbSNP: rs550057
rs550057
ABO
0.925 0.080 9 133271182 intron variant T/A;C snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs550057
rs550057
ABO
0.925 0.080 9 133271182 intron variant T/A;C snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.700 1.000 1 2019 2019
dbSNP: rs550057
rs550057
ABO
0.925 0.080 9 133271182 intron variant T/A;C snv
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis
0.700 1.000 1 2012 2012
dbSNP: rs550057
rs550057
ABO
0.925 0.080 9 133271182 intron variant T/A;C snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.010 < 0.001 1 2019 2019
dbSNP: rs550057
rs550057
ABO
0.925 0.080 9 133271182 intron variant T/A;C snv
CUI: C0011847
Disease: Diabetes
Diabetes
0.010 < 0.001 1 2019 2019
dbSNP: rs550057
rs550057
ABO
0.925 0.080 9 133271182 intron variant T/A;C snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 < 0.001 1 2019 2019