DisGeNET - a database of gene-disease associations

List of associated variants

GIANT PIGMENTED HAIRY NEVUS, C1842036

Source: INFERRED ×

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
rs104894229	LRRC56 ; HRAS	0.564	0.600	11	534289	missense variant	C/A;G;T	snv			52
rs104894230	HRAS ; LRRC56	0.564	0.600	11	534288	missense variant	C/A;G;T	snv			36
rs104894228	LRRC56 ; HRAS	0.605	0.560	11	534286	missense variant	C/A;G;T	snv			30
rs11554290	NRAS	0.583	0.600	1	114713908	missense variant	T/A;C;G	snv			25
rs121434595	NRAS	0.708	0.320	1	114716124	missense variant	C/A;G;T	snv			13
rs121913254	NRAS	0.658	0.440	1	114713909	stop gained	G/A;C;T	snv			1