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: rs794729219
rs794729219
BRAF
0.882 0.240 7 140753352 missense variant A/G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 1.000 2 2006 2008
dbSNP: rs794729219
rs794729219
BRAF
0.882 0.240 7 140753352 missense variant A/G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2014 2014