DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Muscle hypotonia ×

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
rs180177035	BRAF	0.752	0.280	7	140801502	missense variant	T/C	snv			35
rs121913348	BRAF	0.763	0.480	7	140781617	missense variant	C/A;G;T	snv			16
rs180177040	BRAF	0.790	0.360	7	140754187	missense variant	T/C;G	snv			9
rs180177042	BRAF	0.807	0.280	7	140749365	missense variant	A/C;T	snv			7
rs180177041	BRAF	0.851	0.240	7	140777006	missense variant	C/G	snv			5
rs869025340	BRAF	0.925	0.160	7	140777032	missense variant	A/C;G;T	snv			4
rs397516893	BRAF	0.925	0.160	7	140778048	missense variant	A/C	snv			3