DisGeNET - a database of gene-disease associations

List of associated variants

Carcinogenesis, C0596263

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
rs750949764	FOS	1.000	0.040	14	75280958	missense variant	G/C	snv	4.0E-06		2
rs751478142	HSPA9 ; LOC105379193	1.000		5	138570994	missense variant	G/A	snv	2.8E-05	1.4E-05	2
rs760583024	MRGPRX1	1.000	0.080	11	18934156	missense variant	G/A;T	snv	8.0E-06		2
rs761896295	FGFR3	1.000	0.080	4	1804450	missense variant	G/A	snv	2.4E-05	2.1E-05	2
rs863224682	TP53	1.000	0.080	17	7669655	missense variant	C/A;T	snv	4.0E-06		2
rs866551255	CDKN1A	1.000	0.040	6	36684145	missense variant	G/A	snv			2
rs267601395	EZH2	0.925	0.160	7	148811636	missense variant	A/G;T	snv			7
rs762292600	ESR1	0.925	0.080	6	151944316	missense variant	A/G	snv	4.0E-06	1.4E-05	7
rs17878467	BIRC5	0.925	0.080	17	78214076	upstream gene variant	C/G;T	snv			6
rs3093030	ICAM4 ; ICAM1	0.925	0.120	19	10286727	non coding transcript exon variant	C/T	snv		0.34	6
rs1367644026	KRT5	0.925	0.080	12	52520259	missense variant	C/A;T	snv	4.0E-06		5
rs28933369	MIR4728 ; ERBB2	0.925	0.080	17	39724744	missense variant	G/A	snv			5
rs4919743	KRT8	0.925	0.080	12	52915800	intron variant	G/A	snv		0.13	5
rs1267580705	EPAS1	0.925	0.240	2	46360680	missense variant	G/A	snv			4
rs12774070	ADAMTS14	0.925	0.120	10	70753879	missense variant	C/A;G	snv	0.23	0.19	4
rs137854574	APC	0.925	0.120	5	112828919	stop gained	C/T	snv			4
rs29232		0.925	0.240	6	29643654	intergenic variant	C/T	snv		0.39	4
rs664589	TALAM1 ; MALAT1	0.925	0.080	11	65501878	non coding transcript exon variant	C/G	snv	6.0E-02	3.8E-02	4
rs6886	CAPG	0.925	0.160	2	85394936	missense variant	T/A;C	snv	0.58		4
rs746830376	EPHB2	0.925	0.200	1	22784501	missense variant	G/A	snv	2.4E-05	3.5E-05	4
rs765189442	ABCB11	0.925	0.080	2	168995422	missense variant	T/C	snv	8.1E-06		4
rs104893859	PITX2	0.925	0.080	4	110618669	missense variant	C/G;T	snv			3
rs121909174	SLC5A5	0.925	0.120	19	17881961	missense variant	A/C	snv	1.2E-05		3
rs1238981206	ERBB2 ; MIR4728	0.925	0.080	17	39724828	missense variant	G/A	snv	4.0E-06		3
rs17103265	NFKBIA	0.925	0.080	14	35405503	upstream gene variant	A/-	delins			3