DisGeNET - a database of gene-disease associations

List of associated variants

Cervix carcinoma, C0302592

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
rs2048718	BRIP1	0.827	0.120	17	61863458	5 prime UTR variant	C/T	snv		0.42	5
rs11079454	BRIP1	0.882	0.080	17	61679808	3 prime UTR variant	T/A;C	snv			3
rs16945692	BRIP1	0.882	0.080	17	61862883	intron variant	A/G	snv		0.17	3
rs997363	C2orf83	0.925	0.080	2	227644742	intron variant	C/T	snv		0.64	2
rs1048638	CA9	0.807	0.160	9	35681125	3 prime UTR variant	C/A;G	snv			10
rs7248320	CARD8 ; CARD8-AS1	0.776	0.160	19	48256972	non coding transcript exon variant	G/A	snv		0.65	8
rs1049216	CASP3	0.790	0.200	4	184628935	3 prime UTR variant	A/G	snv		0.27	9
rs9344	CCND1	0.653	0.480	11	69648142	splice region variant	G/A	snv	0.45	0.39	34
rs1799864	CCR2	0.572	0.680	3	46357717	missense variant	G/A	snv	0.13	0.12	68
rs333	CCR5 ; CCR5AS	0.667	0.520	3	46373453	frameshift variant	GTCAGTATCAATTCTGGAAGAATTTCCAGACA/-	delins		7.3E-02	23
rs3212986	CD3EAP ; ERCC1	0.620	0.400	19	45409478	stop gained	C/A;G;T	snv	0.29; 4.3E-06; 4.3E-06		42
rs1883832	CD40	0.581	0.680	20	46118343	5 prime UTR variant	T/C	snv	0.75	0.80	52
rs3765459	CD40	0.807	0.280	20	46128768	intron variant	G/A;C	snv	0.22		7
rs13706	CDC6	0.776	0.200	17	40300899	missense variant	G/A;C	snv	0.15; 8.0E-06		11
rs8179	CDK6	0.882	0.080	7	92606850	3 prime UTR variant	T/A;C;G	snv			8
rs42033	CDK6	0.882	0.080	7	92608219	3 prime UTR variant	A/T	snv		0.16	5
rs42032	CDK6	0.882	0.080	7	92608112	3 prime UTR variant	G/A	snv		0.28	3
rs1801270	CDKN1A	0.689	0.400	6	36684194	missense variant	C/A;T	snv	0.15; 4.4E-05		22
rs1059234	CDKN1A	0.790	0.120	6	36685820	3 prime UTR variant	C/T	snv	0.15	0.13	10
rs3176352	CDKN1A	0.807	0.120	6	36684562	intron variant	C/A;G;T	snv	8.0E-06; 0.37; 2.0E-05		7
rs4777498	CELF6	0.882	0.080	15	72285731	3 prime UTR variant	C/A	snv		0.74	3
rs401681	CLPTM1L	0.620	0.640	5	1321972	intron variant	C/T	snv		0.48	42
rs402710	CLPTM1L	0.716	0.320	5	1320607	non coding transcript exon variant	C/T	snv	0.33	0.38	18
rs4282438	COL11A2P1	0.807	0.280	6	33104395	intron variant	T/G	snv		3.1E-02	6
rs4680	COMT ; MIR4761	0.442	0.920	22	19963748	missense variant	G/A	snv	0.46	0.44	249