DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of esophagus, C0546837

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
rs1130409	APEX1	0.555	0.720	14	20456995	missense variant	T/A;C;G	snv	4.0E-06; 4.0E-06; 0.42		72
rs1364898025	ATM	0.925	0.080	11	108227656	missense variant	G/A	snv			3
rs2273535	AURKA	0.645	0.360	20	56386485	missense variant	A/C;T	snv	0.28		38
rs1047972	AURKA	0.716	0.240	20	56386407	missense variant	T/C	snv	0.85	0.84	19
rs1800477	BCL2	0.763	0.480	18	63318540	missense variant	C/T	snv	1.8E-02	4.9E-03	12
rs873601	BIVM-ERCC5 ; ERCC5	0.677	0.360	13	102875987	3 prime UTR variant	G/A	snv		0.59	25
rs2296147	BIVM-ERCC5 ; ERCC5	0.695	0.280	13	102846025	5 prime UTR variant	T/C	snv		0.38	21
rs3782886	BRAP	0.724	0.480	12	111672685	synonymous variant	T/C	snv	1.9E-02	5.9E-03	22
rs11066001	BRAP	0.763	0.360	12	111681367	intron variant	T/C	snv		5.8E-03	15
rs11473	BSG	0.882	0.080	19	582982	3 prime UTR variant	C/A;T	snv			4
rs6682925	C1orf141 ; IL23R	0.776	0.160	1	67165579	intron variant	C/T	snv		0.47	11
rs886063150	CA2	0.925	0.080	8	85477151	missense variant	C/A;T	snv	8.0E-06		3
rs10931936	CASP8	0.827	0.120	2	201279205	intron variant	T/C	snv		0.72	6
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
rs3176352	CDKN1A	0.807	0.120	6	36684562	intron variant	C/A;G;T	snv	8.0E-06; 0.37; 2.0E-05		7
rs738722	CHEK2	0.882	0.120	22	28734024	intron variant	T/C	snv		0.67	4
rs17168865	CHRM2 ; LOC349160	1.000	0.080	7	136998465	intron variant	T/C	snv		5.5E-02	1
rs465498	CLPTM1L	0.776	0.200	5	1325688	non coding transcript exon variant	A/G	snv		0.46	9
rs115510139	COL6A3	0.827	0.120	2	237331726	intron variant	A/T	snv		0.60	6
rs6720283	COL6A3	0.882	0.120	2	237401239	intron variant	G/A	snv		0.31	4
rs7436	COL6A3	0.925	0.080	2	237324168	3 prime UTR variant	T/A	snv		0.10	3
rs3802842	COLCA2 ; COLCA1	0.695	0.280	11	111300984	intron variant	C/A	snv		0.71	25
rs10058728	CSNK1A1	1.000	0.080	5	149524529	intron variant	A/T	snv		0.64	2
rs1534891	CSNK1E ; TPTEP2-CSNK1E	0.827	0.200	22	38299094	intron variant	T/C	snv		0.90	5
rs1048943	CYP1A1	0.533	0.720	15	74720644	missense variant	T/A;C;G	snv	0.11	5.9E-02	88