Source: UNIPROT

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: rs121913530
rs121913530
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.880 1.000 0 2011 2019
dbSNP: rs121913530
rs121913530
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.810 1.000 1 2007 2012
dbSNP: rs121913530
rs121913530
0.583 0.640 12 25245351 missense variant C/A;G;T snv
Malignant neoplasm of urinary bladder
0.800 0
dbSNP: rs121913530
rs121913530
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.770 1.000 0 2011 2019
dbSNP: rs121913530
rs121913530
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.700 1.000 3 1987 2003