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: rs121913403
rs121913403
0.683 0.240 3 41224622 missense variant C/A;G;T snv
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
0.810 1.000 6 1999 2017
dbSNP: rs121913403
rs121913403
0.683 0.240 3 41224622 missense variant C/A;G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 1.000 0 2016 2016
dbSNP: rs121913403
rs121913403
0.683 0.240 3 41224622 missense variant C/A;G;T snv
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.700 1.000 3 2008 2013