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: rs121913396
rs121913396
0.732 0.200 3 41224607 missense variant A/C;G;T snv
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
0.800 1.000 3 2013 2017
dbSNP: rs121913396
rs121913396
0.732 0.200 3 41224607 missense variant A/C;G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 1.000 0 2016 2016