DisGeNET - a database of gene-disease associations

List of associated variants

Primary malignant neoplasm, C1306459

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
rs3740066	ABCC2	0.724	0.440	10	99844450	missense variant	C/G;T	snv	2.4E-05; 0.34		20
rs2740574	CYP3A4	0.807	0.360	7	99784473	upstream gene variant	C/T	snv		0.78	12
rs775220785	CYP3A4	0.925	0.080	7	99772615	missense variant	C/T	snv	8.0E-06		4
rs12721627	CYP3A4			7	99768470	missense variant	G/C	snv	7.6E-05	5.6E-05	2
rs138105638	CYP3A4			7	99766440	stop gained	G/A;T	snv	6.4E-05	7.7E-05	3
rs776746	CYP3A5 ; ZSCAN25	0.724	0.400	7	99672916	splice acceptor variant	T/C	snv		0.72	21
rs1573496	ADH7	0.827	0.160	4	99428512	missense variant	C/G	snv	8.5E-02; 4.9E-04	7.8E-02	7
rs3737482	ADH7			4	99428309	intron variant	T/C	snv		1.0E-02	2
rs1693482	ADH1C ; ADH1B	0.807	0.240	4	99342808	missense variant	C/T	snv	0.34	0.31	12
rs698	ADH1C ; ADH1B	0.724	0.240	4	99339632	missense variant	T/A;C	snv	0.35		20
rs1229984	ADH1B	0.570	0.560	4	99318162	missense variant	T/C;G	snv	0.90		83
rs1590	TGFBR1	0.882	0.120	9	99153883	3 prime UTR variant	T/C;G	snv			5
rs334354	TGFBR1			9	99146633	intron variant	G/A	snv	0.22	0.22	2
rs11568785	TGFBR1	0.882	0.080	9	99143552	intron variant	A/G;T	snv		7.2E-02	5
rs4148887	LOC100507053 ; ADH4			4	99134711	intron variant	A/G	snv		0.11	2
rs531564	LINC00599 ; MIR124-1	0.672	0.480	8	9903189	non coding transcript exon variant	G/C	snv		0.14	27
rs28457673	IGF1R			15	98958173	3 prime UTR variant	C/G	snv		2.3E-03	2
rs2233679	PIN1 ; LOC100996288	0.763	0.360	19	9834678	splice region variant	C/T	snv		0.59	11
rs2233678	PIN1 ; LOC100996288	0.732	0.360	19	9834503	non coding transcript exon variant	G/A;C	snv			14
rs151227402	SLC2A9 ; DRD5			4	9783126	missense variant	A/G	snv	8.0E-05	3.1E-04	3
rs771246666	DRD5 ; SLC2A9			4	9783122	frameshift variant	T/-	delins	4.4E-05		3
rs115232898	DPYD	1.000	0.080	1	97699474	missense variant	T/C	snv	1.7E-03	6.1E-03	3
rs2808668	XPA	0.851	0.120	9	97690153	intron variant	C/G;T	snv			7
rs747091571	OGG1 ; CAMK1	0.925	0.080	3	9765977	missense variant	C/A	snv	4.0E-06		4
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147