DisGeNET - a database of gene-disease associations

List of associated variants

Meningioma, C0025286

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
rs2686876		0.882	0.080	11	258909	intergenic variant	T/A;C	snv			3
rs267606541	AIP	0.827	0.160	11	67487147	stop gained	C/T	snv			5
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06		54
rs1035938	BICRA	0.776	0.120	19	47680514	missense variant	C/G;T	snv	0.29		8
rs17655	BIVM-ERCC5 ; ERCC5	0.597	0.560	13	102875652	missense variant	G/C	snv	0.28	0.30	52
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
rs4968451	BRIP1	0.732	0.160	17	61849946	intron variant	A/C	snv		0.15	13
rs1045485	CASP8	0.637	0.480	2	201284866	missense variant	G/A;C;T	snv	4.0E-06; 9.0E-02		34
rs603965	CCND1	0.732	0.440	11	69648142	splice region variant	G/A	snv			14
rs3731249	CDKN2A	0.683	0.320	9	21970917	missense variant	C/A;G;T	snv	2.1E-02		23
rs1329443726	CDKN2A	1.000	0.080	9	21971097	frameshift variant	C/-	delins			1
rs1475218156	CDKN2B ; CDKN2B-AS1	1.000	0.080	9	22006096	missense variant	C/G;T	snv	4.2E-06; 8.4E-06		1
rs1056836	CYP1B1	0.581	0.680	2	38071060	missense variant	G/C	snv		0.51	58
rs2235544	DIO1	0.742	0.240	1	53909897	intron variant	C/A;T	snv	0.53; 4.0E-06		14
rs1568234664	DNMT1	1.000	0.080	19	10154774	splice acceptor variant	C/A	snv			1
rs1800067	ERCC4	0.716	0.320	16	13935176	missense variant	G/A	snv	5.6E-02	5.3E-02	17
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs12770228	MIR1915HG	0.882	0.080	10	21494705	non coding transcript exon variant	G/A	snv		0.24	4
rs1243180	MLLT10	0.790	0.160	10	21626690	intron variant	T/A	snv		0.23	7
rs11012732	MLLT10	0.882	0.080	10	21541175	intron variant	A/G	snv		0.31	5
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93