DisGeNET - a database of gene-disease associations

List of associated variants

Secondary Neoplasm, C2939419

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs11554290	NRAS	0.583	0.600	1	114713908	missense variant	T/A;C;G	snv			59
rs5361	SELE ; C1orf112	0.623	0.720	1	169731919	missense variant	T/G	snv	8.3E-02; 8.0E-06	7.8E-02	47
rs1458766475	C1orf112 ; SELE	0.637	0.680	1	169732649	missense variant	C/G;T	snv	4.0E-06; 4.0E-06		41
rs1057519695	NRAS	0.641	0.520	1	114713907	missense variant	TT/CA;CC	mnv			35
rs486907	RNASEL	0.667	0.360	1	182585422	missense variant	C/T	snv	0.31	0.28	32
rs1057519834	NRAS	0.658	0.480	1	114713908	missense variant	TG/CT	mnv			31
rs1800947	CRP	0.683	0.440	1	159713648	splice region variant	C/A;G;T	snv	4.4E-05; 5.1E-02; 4.0E-06		28
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
rs768827923	PIK3CD	0.851	0.080	1	9721816	missense variant	T/G	snv			6
rs523349	SRD5A2	0.689	0.440	2	31580636	missense variant	G/A;C;T	snv	0.66; 4.9E-06		21
rs2230774	ROCK2	0.807	0.240	2	11218994	missense variant	G/C;T	snv	0.49		12
rs11902171	ITGAV	0.925	0.080	2	186678500	3 prime UTR variant	G/C	snv		0.22	6
rs752021744	PIK3CB	0.689	0.440	3	138759306	missense variant	T/C	snv	1.2E-05		29
rs115160714	TOPBP1	0.807	0.200	3	133601021	3 prime UTR variant	G/A	snv		5.8E-03	9
rs2282679	GC	0.645	0.480	4	71742666	intron variant	T/G	snv		0.21	38
rs1870377	KDR	0.695	0.520	4	55106807	missense variant	T/A	snv	0.22	0.20	25
rs1057519710	KIT	0.695	0.280	4	54733166	missense variant	G/C;T	snv			22
rs121913512	KIT	0.851	0.120	4	54728055	missense variant	A/C;G	snv			9
rs60745952	LOC107986195 ; LOC105377481	0.925	0.080	4	148827842	intron variant	T/C	snv		0.13	6
rs200081710	TNIP3	1.000	0.120	4	121154648	missense variant	T/C	snv		7.0E-06	3
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs1490204625	RASA1	0.925	0.160	5	87268486	missense variant	G/A	snv			5
rs699947	VEGFA	0.570	0.680	6	43768652	upstream gene variant	A/C;T	snv			67