DisGeNET - a database of gene-disease associations

List of associated variants

Malignant Neoplasms, C0006826

Source: BEFREE ×

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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
rs3087243	CTLA4	0.623	0.720	2	203874196	downstream gene variant	G/A	snv		0.37	35
rs4420638	APOC1	0.708	0.520	19	44919689	downstream gene variant	A/G	snv		0.18	14
rs2066865	FGG	0.807	0.240	4	154604124	downstream gene variant	G/A	snv		0.26	9
rs4975616		0.763	0.320	5	1315545	downstream gene variant	G/A	snv		0.51	9
rs132793		0.851	0.160	22	41667677	downstream gene variant	A/C;G;T	snv			7
rs406193		0.882	0.120	20	32811837	downstream gene variant	T/C	snv		0.91	5
rs12945597	TOP3A	0.925	0.080	17	18271367	downstream gene variant	G/A	snv		0.31	4
rs508384	SCD			10	100365004	downstream gene variant	C/A;T	snv			2
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs2275913	IL17A	0.514	0.760	6	52186235	upstream gene variant	G/A	snv		0.28	105
rs25531	SLC6A4 ; LOC105371720	0.581	0.520	17	30237328	upstream gene variant	T/C	snv		0.18	72
rs699947	VEGFA	0.570	0.680	6	43768652	upstream gene variant	A/C;T	snv			67
rs4073	CXCL8	0.566	0.800	4	73740307	upstream gene variant	A/T	snv		0.46	64
rs361525	TNF	0.562	0.760	6	31575324	upstream gene variant	G/A	snv		4.6E-02	62
rs2243250	IL4	0.570	0.760	5	132673462	upstream gene variant	C/T	snv		0.35	61
rs1024611		0.568	0.800	17	34252769	upstream gene variant	A/G	snv		0.28	59
rs3918242	MMP9	0.602	0.680	20	46007337	upstream gene variant	C/T	snv		0.14	53
rs1799964	LTA ; LOC100287329 ; TNF	0.608	0.760	6	31574531	upstream gene variant	T/C	snv		0.19	46
rs1799724	LTA ; TNF	0.600	0.680	6	31574705	upstream gene variant	C/T	snv		8.5E-02	45
rs1800587	IL1A	0.620	0.720	2	112785383	upstream gene variant	G/A;C	snv		0.32	43
rs5742909	CTLA4	0.614	0.680	2	203867624	upstream gene variant	C/T	snv		6.7E-02	40
rs1570360	VEGFA	0.641	0.680	6	43770093	upstream gene variant	A/G	snv		0.76	38
rs3834129	CASP8	0.627	0.560	2	201232809	upstream gene variant	AGTAAG/-	del		0.48	38
rs266729	ADIPOQ	0.637	0.560	3	186841685	upstream gene variant	C/A;G;T	snv			37
rs1800625	AGER ; PBX2	0.641	0.680	6	32184665	upstream gene variant	A/G	snv		0.15	35