DisGeNET - a database of gene-disease associations

List of associated variants

Neurofibromatoses, C0162678

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
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs397514641	NF1	0.827	0.320	17	31169985	stop gained	C/T	snv	4.0E-06	1.4E-05	11
rs137854550	NF1	0.790	0.360	17	31258500	missense variant	A/C;G	snv			10
rs587783031	APC	0.851	0.120	5	112840255	frameshift variant	A/-;AA	delins			7
rs786202112	NF1	0.827	0.280	17	31327839	missense variant	G/A	snv			7
rs866445127	NF1	0.851	0.240	17	31352348	stop gained	C/T	snv			7
rs1057518842	NF1	1.000	0.080	17	31227215	splice region variant	T/G	snv			5
rs1057518904	NF1	0.882	0.240	17	31221932	missense variant	A/G	snv			5
rs1555534929	NF1	1.000	0.080	17	31337882	splice donor variant	T/-	del			4
rs267606600	NF1	1.000	0.120	17	31219018	frameshift variant	AG/-	del		1.4E-05	4
rs797045139	NF1	0.882	0.120	17	31327718	missense variant	C/A;G;T	snv			4
rs397514640	PAX6	0.882	0.160	11	31802733	missense variant	G/A	snv			4
rs1555533285	NF1	1.000	0.080	17	31325859	stop gained	C/G	snv			3
rs1555618516	NF1	0.925	0.080	17	31258405	missense variant	G/C	snv			3
rs1555619056	NF1	0.925	0.160	17	31261858	splice donor variant	G/A;C	snv			3