Source: BEFREE

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: rs104894098
rs104894098
0.851 0.200 9 21970982 missense variant A/T snv
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
0.710 1.000 1 1995 2013
dbSNP: rs104894098
rs104894098
0.851 0.200 9 21970982 missense variant A/T snv
CUI: C0025202
Disease: melanoma
melanoma
0.050 1.000 5 1999 2015