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
rs1570360	VEGFA	0.641	0.680	6	43770093	upstream gene variant	A/G	snv		0.76	38
rs1057519695	NRAS	0.641	0.520	1	114713907	missense variant	TT/CA;CC	mnv			35
rs121913364	BRAF	0.641	0.520	7	140753334	missense variant	T/C;G	snv	4.0E-06		34
rs1136201	ERBB2	0.645	0.280	17	39723335	missense variant	A/G;T	snv	0.20		34
rs20576	TNFRSF10A	0.637	0.400	8	23200707	missense variant	T/G	snv	0.15	0.14	34
rs1057519975	TP53	0.649	0.480	17	7675209	missense variant	A/C;G;T	snv			34
rs1800624	PBX2 ; AGER	0.658	0.480	6	32184610	upstream gene variant	A/G;T	snv			33
rs112445441	KRAS	0.658	0.400	12	25245347	missense variant	C/A;G;T	snv			32
rs486907	RNASEL	0.667	0.360	1	182585422	missense variant	C/T	snv	0.31	0.28	32
rs121913227	BRAF	0.653	0.320	7	140753336	missense variant	AC/CT;TT	mnv			31
rs1057519834	NRAS	0.658	0.480	1	114713908	missense variant	TG/CT	mnv			31
rs752021744	PIK3CB	0.689	0.440	3	138759306	missense variant	T/C	snv	1.2E-05		29
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
rs1870377	KDR	0.695	0.520	4	55106807	missense variant	T/A	snv	0.22	0.20	25
rs1063192	CDKN2B ; CDKN2B-AS1	0.695	0.520	9	22003368	3 prime UTR variant	G/A;T	snv			24
rs712	KRAS	0.677	0.360	12	25209618	3 prime UTR variant	A/C	snv		0.46	24
rs75076352	RET	0.689	0.240	10	43114500	missense variant	T/A;C;G	snv	1.2E-05		24
rs1057519710	KIT	0.695	0.280	4	54733166	missense variant	G/C;T	snv			22
rs75996173	RET	0.716	0.240	10	43114501	missense variant	G/A;C;T	snv	4.0E-06; 4.0E-06		21
rs523349	SRD5A2	0.689	0.440	2	31580636	missense variant	G/A;C;T	snv	0.66; 4.9E-06		21
rs1057519902	H3-3A	0.742	0.160	1	226064451	missense variant	G/C	snv			16
rs7758229	SLC22A3	0.732	0.120	6	160419220	intron variant	G/A;T	snv			16
rs965513	PTCSC2	0.742	0.200	9	97793827	intron variant	A/G;T	snv			15
rs4149117	SLCO1B3-SLCO1B7 ; SLCO1B3	0.763	0.360	12	20858546	missense variant	T/C;G	snv	0.81		15
rs1553260624	H3-3A	0.763	0.080	1	226064454	missense variant	G/A	snv			14