DisGeNET - a database of gene-disease associations

List of associated variants

Adult Glioblastoma, C0278878

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
rs17296479		0.851	0.040	5	81411157	non coding transcript exon variant	T/A	snv		9.4E-02	5
rs144551722		0.851	0.040	X	43632629	intergenic variant	G/A	snv		0.13	4
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs1128503	ABCB1	0.564	0.760	7	87550285	synonymous variant	A/G	snv	0.54	0.63	64
rs2440472	AMFR	0.827	0.080	16	56402912	intron variant	A/G	snv		0.61	5
rs373191257	AMFR	0.827	0.080	16	56363027	missense variant	T/A	snv	1.6E-05	7.0E-06	5
rs3092993	ATM ; C11orf65	0.827	0.040	11	108364388	intron variant	C/A	snv		0.11	5
rs76151636	ATP7B	0.776	0.280	13	51944145	missense variant	G/A;T	snv	4.0E-06; 9.2E-04		10
rs1320938886	BLZF1	0.851	0.040	1	169376605	missense variant	T/G	snv	4.0E-06		4
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
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	43
rs1135401891	BRCA2	0.790	0.280	13	32332796	frameshift variant	-/CT	ins			7
rs373584770	CASP1	0.827	0.120	11	105030337	missense variant	G/A	snv	4.0E-06	7.0E-06	5
rs4295627	CCDC26	0.763	0.200	8	129673211	intron variant	T/G	snv		0.17	11
rs753152604	CDK4	0.827	0.040	12	57751680	missense variant	C/A	snv			7
rs1453633223	CDKN2A	0.807	0.080	9	21974503	missense variant	C/T	snv	4.0E-06		6
rs4977756	CDKN2B-AS1	0.683	0.440	9	22068653	intron variant	G/A	snv		0.64	24
rs1444669684	CDKN2B-AS1 ; CDKN2A	0.658	0.480	9	21994285	missense variant	C/A;T	snv			36
rs2017309	CHEK2	0.851	0.040	22	28735438	intron variant	T/A	snv		0.23	4
rs1029044314	DDR1	0.851	0.040	6	30898095	missense variant	G/A	snv			4
rs2235544	DIO1	0.742	0.240	1	53909897	intron variant	C/A;T	snv	0.53; 4.0E-06		14
rs12885300	DIO2 ; DIO2-AS1	0.790	0.200	14	80211923	5 prime UTR variant	C/A;G;T	snv			7
rs149840192	EGFR	0.807	0.080	7	55154129	missense variant	C/A;T	snv			7
rs1800734	EPM2AIP1 ; MLH1	0.653	0.400	3	36993455	5 prime UTR variant	G/A	snv		0.22	30