DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: melanoma ×

Variants associated to the Gene: ERBB4 ×

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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
rs202247795	ERBB4	1.000	0.040	2	211702102	missense variant	C/T	snv			1
rs267599192	ERBB4	1.000	0.040	2	211673250	missense variant	G/A	snv			1
rs267599193	ERBB4	1.000	0.040	2	211713583	missense variant	C/T	snv			1
rs535202189	ERBB4	1.000	0.040	2	211673256	missense variant	C/T	snv	6.8E-05		1
rs55671017	ERBB4	1.000	0.040	2	211705339	missense variant	G/A;T	snv	8.0E-06; 6.4E-04		1
rs776347334	ERBB4	1.000	0.040	2	211430974	missense variant	C/T	snv	1.2E-05		1