DisGeNET - a database of gene-disease associations

List of associated variants

Malignant Peripheral Nerve Sheath Tumor, C0751690

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
rs10719	DROSHA	0.677	0.680	5	31401340	3 prime UTR variant	A/G;T	snv	0.69		24
rs7813	GEMIN4	0.689	0.360	17	744946	missense variant	G/A;C	snv	0.63		22
rs868408509	LAMA2	0.827	0.160	6	128883315	missense variant	C/G;T	snv	4.6E-06		6
rs1991401	CEP95 ; DDX5	0.882	0.120	17	64506317	5 prime UTR variant	A/G	snv		0.25	4
rs149146781	AAAS	0.925	0.080	12	53314757	missense variant	G/A;T	snv	4.0E-06		2
rs768784941	AAAS	0.925	0.080	12	53314352	missense variant	G/A;C	snv	4.0E-06		2
rs139819006	APP	0.925	0.080	21	26022001	missense variant	G/A	snv	1.4E-04	6.3E-05	2
rs771317418	APP	0.925	0.080	21	26051117	missense variant	A/G	snv	2.0E-05	2.1E-05	2
rs1297630698	GCA	0.925	0.080	2	162359540	frameshift variant	C/-	del			2
rs755258895	GCA	0.925	0.080	2	162347711	missense variant	T/C	snv	8.1E-06		2
rs1406402854	GGT1	0.925	0.080	22	24614850	missense variant	C/T	snv			2
rs766007044	ITGA2B	0.925	0.080	17	44385562	missense variant	T/C	snv	4.9E-06	2.1E-05	2
rs137852604	MXI1	0.925	0.080	10	110228276	missense variant	C/T	snv	4.0E-06	7.0E-06	2
rs759049323	MXI1	0.925	0.080	10	110284872	missense variant	T/C;G	snv	4.0E-06; 4.0E-06		2
rs1224520731	QPCT	0.925	0.080	2	37359620	missense variant	T/C	snv	4.0E-06	7.0E-06	2
rs769267394	TTC3	0.925	0.080	21	37153248	missense variant	C/T	snv	4.0E-06		2
rs7005286	AGO2	1.000	0.080	8	140584361	intron variant	T/C	snv		0.86	1