Source: GWASDB

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: rs1042602
rs1042602
0.925 0.080 11 89178528 missense variant C/A snv 0.25 0.24
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation
0.800 1.000 1 2007 2018
dbSNP: rs1042602
rs1042602
0.925 0.080 11 89178528 missense variant C/A snv 0.25 0.24
CUI: C0016689
Disease: Freckles
Freckles
0.700 1.000 1 2007 2007