DisGeNET - a database of gene-disease associations

List of shared variants

Squamous cell carcinoma of the head and neck, C1168401

Disease: melanoma

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
rs104894230	HRAS ; LRRC56	0.564	0.600	11	534288	missense variant	C/A;G;T	snv			36
rs121913274	PIK3CA	0.645	0.320	3	179218304	missense variant	A/C;G;T	snv			28
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		22
rs28931589	CTNNB1	0.695	0.240	3	41224613	missense variant	G/A;C;T	snv			13
rs121913338	BRAF	0.677	0.400	7	140753354	missense variant	T/A;C;G	snv			12
rs397516896	BRAF	0.763	0.360	7	140753355	missense variant	C/G;T	snv			11
rs121913351	BRAF	0.776	0.240	7	140781611	missense variant	C/A;G;T	snv	4.0E-06		9
rs869025608	MAP2K1	0.763	0.400	15	66435117	missense variant	G/C;T	snv			9
rs121913386	CDKN2A	0.807	0.120	9	21971018	missense variant	G/A;T	snv			6