DisGeNET - a database of gene-disease associations

List of shared variants

Malignant neoplasm of lung, C0242379

Disease: Squamous cell carcinoma of esophagus

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
rs10811474		0.742	0.240	9	21114238	intergenic variant	A/G	snv		0.44	11
rs2736108		0.807	0.160	5	1297373	upstream gene variant	C/T	snv		0.24	6
rs2032582	ABCB1	0.538	0.800	7	87531302	missense variant	A/C;T	snv	0.54; 3.8E-02		97
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs664677	ATM	0.807	0.160	11	108272455	intron variant	C/A;T	snv		0.65	8
rs2273535	AURKA	0.645	0.360	20	56386485	missense variant	A/C;T	snv	0.28		38
rs873601	BIVM-ERCC5 ; ERCC5	0.677	0.360	13	102875987	3 prime UTR variant	G/A	snv		0.59	25
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	43
rs144848	BRCA2	0.653	0.440	13	32332592	missense variant	A/C	snv	0.28	0.23	29
rs9344	CCND1	0.653	0.480	11	69648142	splice region variant	G/A	snv	0.45	0.39	34
rs3731239	CDKN2A	0.763	0.240	9	21974219	intron variant	A/G	snv		0.26	10
rs2151280	CDKN2B-AS1	0.701	0.360	9	22034720	non coding transcript exon variant	G/A	snv		0.46	16
rs667282	CHRNA5	0.790	0.120	15	78571130	intron variant	T/C	snv		0.28	13
rs401681	CLPTM1L	0.620	0.640	5	1321972	intron variant	C/T	snv		0.48	42
rs451360	CLPTM1L	0.827	0.200	5	1319565	intron variant	C/A;T	snv			5
rs4680	COMT ; MIR4761	0.442	0.920	22	19963748	missense variant	G/A	snv	0.46	0.44	249
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
rs2267437	DESI1 ; XRCC6	0.724	0.320	22	41620695	intron variant	C/A;G	snv			19
rs121913444	EGFR	0.724	0.160	7	55191831	missense variant	T/A;C;G	snv			18
rs2072454	EGFR	0.763	0.160	7	55146655	synonymous variant	C/T	snv	0.51	0.51	9
rs1051740	EPHX1	0.592	0.760	1	225831932	missense variant	T/C	snv	0.32	0.27	56
rs2234922	EPHX1	0.630	0.440	1	225838705	missense variant	A/G;T	snv	0.19; 2.8E-05		42
rs1800734	EPM2AIP1 ; MLH1	0.653	0.400	3	36993455	5 prime UTR variant	G/A	snv		0.22	30