DisGeNET - a database of gene-disease associations

List of associated variants

Melanocytic nevus, C0027962

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
rs180177035	BRAF	0.752	0.280	7	140801502	missense variant	T/C	snv			35
rs121909224	PTEN	0.627	0.560	10	87933147	stop gained	C/G;T	snv	1.2E-05		35
rs1564045331	XPA	0.716	0.320	9	97687208	inframe deletion	ATTCTT/-	delins			35
rs778543124	XPA	0.716	0.320	9	97675476	frameshift variant	AGTCTTACGGTACA/-	delins	6.8E-05	6.3E-05	35
rs104894228	LRRC56 ; HRAS	0.605	0.560	11	534286	missense variant	C/A;G;T	snv			30
rs1554121443	SYNGAP1 ; MIR5004	0.742	0.280	6	33438873	stop gained	C/T	snv			29
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		22
rs28931614	FGFR3	0.672	0.520	4	1804392	missense variant	G/A;C	snv			15
rs121434595	NRAS	0.708	0.320	1	114716124	missense variant	C/A;G;T	snv			13
rs121913338	BRAF	0.677	0.400	7	140753354	missense variant	T/A;C;G	snv			12
rs149617956	MITF	0.672	0.560	3	69964940	missense variant	G/A	snv	1.4E-03	1.6E-03	12
rs1554927408	FGFR2	0.742	0.480	10	121515254	missense variant	C/T	snv			11
rs11547328	CDK4	0.701	0.360	12	57751648	missense variant	G/A;T	snv	4.0E-06		6
rs1085308047	PTEN ; KLLN	0.827	0.160	10	87864509	missense variant	A/G	snv			6
rs121913535	KRAS	0.742	0.320	12	25245348	missense variant	C/A;G;T	snv			5
rs104894095	CDKN2A	0.827	0.120	9	21971200	missense variant	C/G;T	snv	9.0E-06		3
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			2
rs121913227	BRAF	0.653	0.320	7	140753336	missense variant	AC/CT;TT	mnv			1
rs12913832	HERC2	0.763	0.200	15	28120472	intron variant	A/G	snv		0.50	1
rs12203592	IRF4	0.649	0.320	6	396321	intron variant	C/T	snv		0.10	1
rs1805006	MC1R	0.790	0.080	16	89919510	missense variant	C/A;G	snv	5.2E-03; 4.0E-06		1
rs121913254	NRAS	0.658	0.440	1	114713909	stop gained	G/A;C;T	snv			1