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: rs121913400
rs121913400
0.683 0.360 3 41224610 missense variant C/A;G;T snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.810 1.000 2 2000 2016
dbSNP: rs121913400
rs121913400
0.683 0.360 3 41224610 missense variant C/A;G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 1.000 10 2006 2015
dbSNP: rs121913400
rs121913400
0.683 0.360 3 41224610 missense variant C/A;G;T snv
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
0.800 1.000 6 1999 2017
dbSNP: rs121913400
rs121913400
0.683 0.360 3 41224610 missense variant C/A;G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 1.000 0 2016 2016