DisGeNET - a database of gene-disease associations

List of shared variants

Carcinogenesis, C0596263

Disease: Malignant Neoplasms

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
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913369	BRAF	0.790	0.280	7	140753346	missense variant	G/A;C	snv	4.0E-06		12
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs1447295	CASC8	0.658	0.400	8	127472793	intron variant	A/C;T	snv			29
rs13281615	CASC8 ; POU5F1B ; PCAT1 ; CASC21	0.716	0.360	8	127343372	intron variant	A/G	snv		0.43	18
rs13010627	CASP10	0.807	0.280	2	201209375	missense variant	G/A	snv	4.2E-02	4.3E-02	10
rs1045485	CASP8	0.637	0.480	2	201284866	missense variant	G/A;C;T	snv	4.0E-06; 9.0E-02		34
rs9344	CCND1	0.653	0.480	11	69648142	splice region variant	G/A	snv	0.45	0.39	34
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
rs187115	CD44	0.695	0.320	11	35154612	intron variant	T/C	snv		0.37	22
rs13706	CDC6	0.776	0.200	17	40300899	missense variant	G/A;C	snv	0.15; 8.0E-06		11
rs11547328	CDK4	0.701	0.360	12	57751648	missense variant	G/A;T	snv	4.0E-06		27
rs771138120	CDKN2A	0.827	0.120	9	21971191	missense variant	G/A;C;T	snv	9.1E-06; 4.5E-06		13
rs1444669684	CDKN2B-AS1 ; CDKN2A	0.658	0.480	9	21994285	missense variant	C/A;T	snv			36
rs74751600	CHEK2			22	28695852	missense variant	T/C	snv			3
rs401681	CLPTM1L	0.620	0.640	5	1321972	intron variant	C/T	snv		0.48	42
rs4680	COMT ; MIR4761	0.442	0.920	22	19963748	missense variant	G/A	snv	0.46	0.44	249
rs231775	CTLA4	0.504	0.720	2	203867991	missense variant	A/G;T	snv	0.42; 4.0E-06		115
rs4073	CXCL8	0.566	0.800	4	73740307	upstream gene variant	A/T	snv		0.46	64
rs4673	CYBA	0.653	0.600	16	88646828	missense variant	A/G;T	snv	0.70		32
rs1048943	CYP1A1	0.533	0.720	15	74720644	missense variant	T/A;C;G	snv	0.11	5.9E-02	88
rs762551	CYP1A2	0.701	0.400	15	74749576	intron variant	C/A	snv		0.67	23
rs1056836	CYP1B1	0.581	0.680	2	38071060	missense variant	G/C	snv		0.51	58
rs2740574	CYP3A4	0.807	0.360	7	99784473	upstream gene variant	C/T	snv		0.78	12
rs776746	CYP3A5 ; ZSCAN25	0.724	0.400	7	99672916	splice acceptor variant	T/C	snv		0.72	21