DisGeNET - a database of gene-disease associations

List of shared variants

Cutaneous Melanoma, C0151779

Disease: Cardio-facio-cutaneous syndrome

Source: CLINVAR ×

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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
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		32
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		22
rs121913364	BRAF	0.641	0.520	7	140753334	missense variant	T/C;G	snv	4.0E-06		14
rs397507484	BRAF	0.752	0.480	7	140753333	missense variant	T/A;C;G	snv			10
rs180177040	BRAF	0.790	0.360	7	140754187	missense variant	T/C;G	snv			9
rs869025608	MAP2K1	0.763	0.400	15	66435117	missense variant	G/C;T	snv			9
rs121434498	MAP2K2	0.807	0.280	19	4117553	missense variant	A/C;G;T	snv			6
rs397516792	MAP2K1	0.827	0.280	15	66436825	missense variant	C/A;G;T	snv			6