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
rs1040411	ATG5	1.000	0.120	6	106150148	intron variant	G/A	snv		0.47	3
rs1052667	ARHGAP35	0.882	0.040	19	47004177	3 prime UTR variant	C/G;T	snv			6
rs1057519695	NRAS	0.641	0.520	1	114713907	missense variant	TT/CA;CC	mnv			35
rs1057519710	KIT	0.695	0.280	4	54733166	missense variant	G/C;T	snv			22
rs1057519824	MET	0.807	0.120	7	116783374	missense variant	T/G	snv			10
rs1057519834	NRAS	0.658	0.480	1	114713908	missense variant	TG/CT	mnv			31
rs1057519847	EGFR	0.570	0.560	7	55191821	missense variant	CT/AG	mnv			72
rs1057519848	EGFR	0.570	0.560	7	55191822	missense variant	TG/GT	mnv			72
rs1057519902	H3-3A	0.742	0.160	1	226064451	missense variant	G/C	snv			16
rs1057519975	TP53	0.649	0.480	17	7675209	missense variant	A/C;G;T	snv			34
rs1063192	CDKN2B ; CDKN2B-AS1	0.695	0.520	9	22003368	3 prime UTR variant	G/A;T	snv			24
rs10817938	PTCSC2	0.882	0.080	9	97700127	non coding transcript exon variant	T/C	snv		3.2E-02	5
rs112445441	KRAS	0.658	0.400	12	25245347	missense variant	C/A;G;T	snv			32
rs1131691036	TP53	0.851	0.080	17	7675207	frameshift variant	GCA/CC	delins			8
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs1136201	ERBB2	0.645	0.280	17	39723335	missense variant	A/G;T	snv	0.20		34
rs115160714	TOPBP1	0.807	0.200	3	133601021	3 prime UTR variant	G/A	snv		5.8E-03	9
rs11549465	HIF1A-AS3 ; HIF1A	0.597	0.680	14	61740839	missense variant	C/T	snv	8.8E-02	7.7E-02	55
rs11554290	NRAS	0.583	0.600	1	114713908	missense variant	T/A;C;G	snv			59
rs1179251	IL22 ; LOC105369818	0.763	0.320	12	68251271	intron variant	C/G	snv		0.18	14
rs11902171	ITGAV	0.925	0.080	2	186678500	3 prime UTR variant	G/C	snv		0.22	6
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv			73
rs121434569	EGFR-AS1 ; EGFR	0.581	0.520	7	55181378	missense variant	C/T	snv	2.8E-05	5.6E-05	70
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs121912664	TP53	0.630	0.320	17	7670699	missense variant	C/A;G;T	snv	1.2E-05		44