Source: ALL

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: rs1287464120
rs1287464120
1.000 0.120 9 21994235 stop gained C/A;T snv 1.7E-05
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
0.700 1.000 3 2001 2007