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: rs1057519718
rs1057519718
BRAF
0.925 0.160 7 140753355 missense variant CA/TC mnv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 3 2002 2010