DisGeNET - a database of gene-disease associations

List of associated variants

Primary Lesion, C1402294

Source: ALL

Results per page

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
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv			73
rs387907272	MYD88	0.572	0.520	3	38141150	stop lost	T/C	snv	5.2E-05	7.0E-06	73
rs1057519847	EGFR	0.570	0.560	7	55191821	missense variant	CT/AG	mnv			72
rs1057519848	EGFR	0.570	0.560	7	55191822	missense variant	TG/GT	mnv			72
rs121434569	EGFR-AS1 ; EGFR	0.581	0.520	7	55181378	missense variant	C/T	snv	2.8E-05	5.6E-05	70
rs104894365	KRAS	0.827	0.320	12	25245345	missense variant	C/T	snv			9
rs868917893	RBM10			X	47171183	missense variant	G/T	snv	6.0E-06		1
rs554561071	VEGFA			6	43777513	missense variant	A/G	snv	1.2E-05	3.5E-05	1