DisGeNET - a database of gene-disease associations

List of associated variants

Malignant Glioma, C0555198

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
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		96
rs12917	MGMT ; LOC105378560	0.605	0.480	10	129708019	missense variant	C/T	snv	0.14	0.14	45
rs55819519	TP53	0.627	0.400	17	7673751	missense variant	C/A;G;T	snv	1.6E-04	1.3E-04	40
rs2308321	MGMT	0.653	0.480	10	129766800	missense variant	A/G	snv	9.3E-02	8.7E-02	29
rs1057519903	H3-3A	0.683	0.080	1	226064434	missense variant	A/T	snv			28
rs2298881	ERCC1	0.653	0.400	19	45423658	intron variant	C/A;T	snv			25
rs1805015	IL4R	0.683	0.520	16	27362859	missense variant	T/C	snv	0.16	0.22	22
rs1057519904	H3C11	0.742	0.080	6	27872233	missense variant	T/A	snv			17
rs1057519902	H3-3A	0.742	0.160	1	226064451	missense variant	G/C	snv			16
rs1553260624	H3-3A	0.763	0.080	1	226064454	missense variant	G/A	snv			14
rs11554137	IDH1	0.742	0.040	2	208248468	synonymous variant	G/A	snv	5.1E-02	6.8E-02	13
rs2239647	AKAP6	0.851	0.080	14	32823537	synonymous variant	A/C	snv	0.60	0.65	7
rs2252586		0.882	0.040	7	54911231	intergenic variant	C/T	snv		0.27	5
rs1920116	LRRC31	0.882	0.040	3	169862183	intron variant	G/A	snv		0.25	5
rs17174393	ATM ; C11orf65	0.882	0.280	11	108353881	splice donor variant	G/A;C;T	snv	1.6E-05		4
rs12435998	SEL1L	0.851	0.200	14	81506329	intron variant	T/C	snv		0.14	4
rs117677079	ANXA5	0.882	0.040	4	121673909	intron variant	T/C	snv		8.3E-03	3
rs1805016	IL4R	0.882	0.080	16	27363606	missense variant	T/G	snv	6.4E-02	0.13	3
rs7502563	RPTOR	0.882	0.040	17	80947993	intron variant	G/A	snv		0.34	3
rs1424913115	CPOX	1.000	0.040	3	98593250	missense variant	C/A;T	snv			1