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: rs246600
rs246600
1.000 0.040 5 143137332 intron variant C/T snv 0.42
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.800 1.000 2 2013 2018
dbSNP: rs121918546
rs121918546
1.000 0.080 5 143041855 missense variant A/C;G snv 4.3E-06; 4.3E-06
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
Neoplasms; Hemic and Lymphatic Diseases 0.800 1.000 1 2014 2014
dbSNP: rs1010109
rs1010109
5 143174597 intron variant A/G snv 0.15
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 1.000 1 2019 2019
dbSNP: rs12522841
rs12522841
5 143139110 intron variant G/A snv 0.37
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2019 2019
dbSNP: rs145613835
rs145613835
5 143084873 intron variant C/T snv 4.6E-03
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs4912892
rs4912892
5 143046673 intron variant A/C snv 0.49
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 1.000 1 2019 2019
dbSNP: rs72799981
rs72799981
1.000 0.080 5 143150821 intron variant T/C snv 1.5E-02
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
Digestive System Diseases; Infections 0.700 1.000 1 2019 2019
dbSNP: rs187729
rs187729
1.000 0.040 5 143226004 3 prime UTR variant C/G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.010 1.000 1 2014 2014