DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: melanoma ×

Variants associated to the Gene: BRAF ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs121913227	BRAF	0.653	0.320	7	140753336	missense variant	AC/CT;TT	mnv			1
rs121913363	BRAF	1.000	0.040	7	140753361	missense variant	T/C	snv			1
rs121913368	BRAF	0.925	0.040	7	140753345	missense variant	AG/GA	mnv			1
rs121913371	BRAF	1.000	0.040	7	140781678	missense variant	G/A;T	snv	4.0E-06; 8.0E-06		1
rs121913372	BRAF	1.000	0.040	7	140753321	missense variant	CT/AA	mnv			1
rs121913373	BRAF	1.000	0.040	7	140753321	missense variant	C/T	snv			1
rs121913376	BRAF	0.925	0.080	7	140781597	missense variant	C/A;T	snv			1