Source: CLINVAR

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: rs1064794292
rs1064794292
CDKN2A
0.882 0.200 9 21974760 missense variant C/T snv
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.700 1.000 7 1998 2014