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: rs121913337
rs121913337
BRAF
0.925 0.200 7 140753353 missense variant A/C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 3 2002 2014
dbSNP: rs121913337
rs121913337
BRAF
0.925 0.200 7 140753353 missense variant A/C;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 0