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
rs764803020	TP53	0.851	0.040	17	7673750	frameshift variant	-/TTTCCGCCGG	delins	4.0E-06		5
rs781490101	TP53	0.851	0.040	17	7673748	missense variant	T/C	snv	8.0E-06		5
rs1801275	IL4R	0.581	0.680	16	27363079	missense variant	A/G	snv	0.25	0.36	58
rs1805015	IL4R	0.683	0.520	16	27362859	missense variant	T/C	snv	0.16	0.22	22
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
rs8057643	RBFOX1	0.851	0.040	16	6910689	intron variant	C/A;T	snv			4
rs118101777	IDH2	0.614	0.280	15	90087472	missense variant	C/T	snv	2.0E-03	1.6E-03	42
rs121913503	IDH2	0.689	0.200	15	90088606	missense variant	C/A;T	snv			23
rs1801320	RAD51 ; RAD51-AS1	0.742	0.160	15	40695330	5 prime UTR variant	G/C	snv		0.12	15
rs865880036	MEIS2	0.827	0.040	15	37098156	missense variant	A/C	snv	1.3E-04		5
rs375391381	FRMD5	0.851	0.040	15	43883735	missense variant	C/T	snv	8.0E-06	1.4E-05	4
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs4644	LGALS3	0.732	0.320	14	55138217	missense variant	C/A;G	snv	0.35		14
rs4652	LGALS3	0.752	0.200	14	55138318	missense variant	A/C	snv	4.1E-06; 0.45	0.57	12
rs12885300	DIO2 ; DIO2-AS1	0.790	0.200	14	80211923	5 prime UTR variant	C/A;G;T	snv			7
rs1957106	NFKBIA	0.851	0.040	14	35404564	synonymous variant	G/A	snv	0.28	0.25	4
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	43
rs76151636	ATP7B	0.776	0.280	13	51944145	missense variant	G/A;T	snv	4.0E-06; 9.2E-04		10
rs1135401891	BRCA2	0.790	0.280	13	32332796	frameshift variant	-/CT	ins			7
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs753152604	CDK4	0.827	0.040	12	57751680	missense variant	C/A	snv			7
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs498872	PHLDB1	0.776	0.240	11	118606652	5 prime UTR variant	A/G;T	snv			10
rs660118	SART1	0.807	0.080	11	65967703	missense variant	G/C	snv	0.46	0.36	6