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: rs121434595
rs121434595
0.708 0.320 1 114716124 missense variant C/A;G;T snv
CUI: C1842036
Disease: GIANT PIGMENTED HAIRY NEVUS
GIANT PIGMENTED HAIRY NEVUS
0.800 1.000 2 2009 2013
dbSNP: rs121434595
rs121434595
0.708 0.320 1 114716124 missense variant C/A;G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 0