DisGeNET - a database of gene-disease associations

List of associated variants

Recurrent tumor, C0521158

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
rs3761549	FOXP3	0.724	0.480	X	49260888	intron variant	G/A	snv		9.6E-02	18
rs3917412	C1orf112 ; SELE	1.000	0.040	1	169731361	intron variant	T/A;C;G	snv			4
rs12438080	CERS3	1.000	0.080	15	100541858	intron variant	A/C	snv		0.50	2
rs894151	C8orf37-AS1	1.000	0.080	8	95226180	intron variant	T/C	snv		0.39	2
rs9926344	WWOX	1.000	0.080	16	78986883	intron variant	G/A;C;T	snv			2
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
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		96
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06		54
rs55819519	TP53	0.627	0.400	17	7673751	missense variant	C/A;G;T	snv	1.6E-04	1.3E-04	40
rs2273535	AURKA	0.645	0.360	20	56386485	missense variant	A/C;T	snv	0.28		38
rs121913233	HRAS ; LRRC56	0.627	0.520	11	533874	missense variant	T/A;C;G	snv			37
rs17235409	SLC11A1	0.653	0.600	2	218395009	missense variant	G/A;C	snv	4.9E-02; 4.1E-06		31
rs2227983	EGFR	0.658	0.520	7	55161562	missense variant	G/A;C;T	snv	0.29		31
rs1057519855	HRAS ; LRRC56	0.776	0.120	11	533873	missense variant	CT/AC;TC	mnv			11
rs1204382931	CYP1B1 ; CYP1B1-AS1	0.790	0.160	2	38075270	missense variant	A/C	snv	4.3E-06		10
rs1056892	CBR3-AS1 ; CBR3	0.882	0.160	21	36146408	missense variant	G/A	snv	0.37	0.39	6
rs746830376	EPHB2	0.925	0.200	1	22784501	missense variant	G/A	snv	2.4E-05	3.5E-05	4
rs553717	GPC5			13	91693325	missense variant	C/T	snv	0.14	0.14	1
rs778264641	SND1			7	127686719	missense variant	G/A	snv			1
rs984502020	NR1I2			3	119807429	missense variant	G/C	snv			1
rs391957	HSPA5 ; LOC107987127	0.763	0.240	9	125241745	non coding transcript exon variant	T/C	snv		0.72	10
rs1305315912	VEGFA	1.000	0.080	6	43770736	synonymous variant	C/T	snv			2
rs2302254	NME1-NME2 ; NME1	0.752	0.240	17	51153539	5 prime UTR variant	C/T	snv		0.22	15