DisGeNET - a database of gene-disease associations

List of associated variants

NEVUS, EPIDERMAL (disorder), C0334082

Source: ALL

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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
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs104894230	HRAS ; LRRC56	0.564	0.600	11	534288	missense variant	C/A;G;T	snv			73
rs104894229	LRRC56 ; HRAS	0.564	0.600	11	534289	missense variant	C/A;G;T	snv			73
rs11554290	NRAS	0.583	0.600	1	114713908	missense variant	T/A;C;G	snv			59
rs121913237	NRAS	0.611	0.560	1	114716126	missense variant	C/A;G;T	snv	8.0E-06		50
rs4647924	FGFR3	0.600	0.520	4	1801844	missense variant	C/A;G;T	snv	4.2E-06; 4.2E-06		49
rs104894228	LRRC56 ; HRAS	0.605	0.560	11	534286	missense variant	C/A;G;T	snv			48
rs121913482	FGFR3	0.630	0.680	4	1801837	missense variant	C/T	snv			45
rs121913281	PIK3CA	0.623	0.520	3	179234296	missense variant	C/T	snv			37
rs121913274	PIK3CA	0.645	0.320	3	179218304	missense variant	A/C;G;T	snv			33
rs121913483	FGFR3	0.649	0.560	4	1801841	missense variant	C/A;G;T	snv	4.2E-06; 1.3E-05		31
rs121913105	FGFR3	0.653	0.600	4	1806163	missense variant	A/C;T	snv			30
rs28933068	FGFR3	0.645	0.560	4	1805644	missense variant	C/A;G;T	snv	1.6E-05		30
rs28931614	FGFR3	0.672	0.520	4	1804392	missense variant	G/A;C	snv			21
rs121913479	FGFR3	0.763	0.280	4	1804362	missense variant	G/A;T	snv	4.0E-06		10
rs147040026	COL7A1	0.882	0.120	3	48591738	missense variant	C/G;T	snv	4.0E-06; 1.6E-05		4
rs397514553	NRAS	0.925	0.200	1	114716060	missense variant	G/A	snv			2