DisGeNET - a database of gene-disease associations

Source: ALL

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
rs121913375	BRAF	0.851	0.240	7	140753339	missense variant	G/A;C	snv			7
rs121913376	BRAF	0.925	0.080	7	140781597	missense variant	C/A;T	snv			2
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs121913378	BRAF	0.776	0.280	7	140753337	missense variant	C/A;G;T	snv			11
rs1225976306	BRAF ; LOC105375536	0.807	0.160	7	140924673	missense variant	C/T	snv	9.3E-06		8
rs1639679	BRAF	1.000	0.040	7	140778454	intron variant	G/T	snv		9.8E-02	1
rs397507482	BRAF	0.882	0.040	7	140753386	missense variant	A/C	snv			3
rs397507484	BRAF	0.752	0.480	7	140753333	missense variant	T/A;C;G	snv			10
rs397516896	BRAF	0.763	0.360	7	140753355	missense variant	C/G;T	snv			11
rs794729219	BRAF	0.882	0.240	7	140753352	missense variant	A/G	snv			3