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: rs755855285
rs755855285
12 56102035 missense variant G/A snv 1.1E-04 1.4E-04
ERYTHROLEUKEMIA, FAMILIAL, SUSCEPTIBILITY TO
0.800 1.000 1 2016 2016
dbSNP: rs1057519893
rs1057519893
0.790 0.160 12 56085070 missense variant G/A;T snv
CUI: C1335167
Disease: Ovarian Mucinous Adenocarcinoma
Ovarian Mucinous Adenocarcinoma
0.700 0