DisGeNET - a database of gene-disease associations

List of shared variants

Carcinoma of bladder, C0699885

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
rs1136410	PARP1	0.559	0.760	1	226367601	missense variant	A/G	snv	0.21	0.15	70
rs2228001	XPC	0.570	0.480	3	14145949	missense variant	G/T	snv	0.63	0.65	60
rs1800566	NQO1	0.576	0.680	16	69711242	missense variant	G/A	snv	0.25	0.21	59
rs1056836	CYP1B1	0.581	0.680	2	38071060	missense variant	G/C	snv		0.51	58
rs1051740	EPHX1	0.592	0.760	1	225831932	missense variant	T/C	snv	0.32	0.27	56
rs2228000	XPC	0.585	0.560	3	14158387	missense variant	G/A	snv	0.24	0.21	53
rs2736098	TERT	0.600	0.600	5	1293971	synonymous variant	C/T	snv	0.29	0.22	48
rs2234922	EPHX1	0.630	0.440	1	225838705	missense variant	A/G;T	snv	0.19; 2.8E-05		42
rs401681	CLPTM1L	0.620	0.640	5	1321972	intron variant	C/T	snv		0.48	42
rs2294008	PSCA ; JRK	0.672	0.320	8	142680513	5 prime UTR variant	C/T	snv	0.46	0.45	28
rs1063192	CDKN2B ; CDKN2B-AS1	0.695	0.520	9	22003368	3 prime UTR variant	G/A;T	snv			24
rs2250889	SLC12A5-AS1 ; MMP9	0.667	0.520	20	46013767	missense variant	G/C;T	snv	0.88; 1.6E-05		24
rs762551	CYP1A2	0.701	0.400	15	74749576	intron variant	C/A	snv		0.67	23
rs2031920	LOC107984284 ; CYP2E1	0.695	0.240	10	133526341	non coding transcript exon variant	C/T	snv		3.1E-02	20
rs2854744	IGFBP3	0.695	0.520	7	45921476	intron variant	G/T	snv		0.48	20
rs4143815	CD274	0.689	0.400	9	5468257	3 prime UTR variant	G/C	snv		0.23	20
rs1805377	XRCC4	0.689	0.480	5	83353124	splice acceptor variant	G/A	snv	0.23	0.25	19
rs7804372	CAV1	0.716	0.320	7	116554174	intron variant	T/A	snv		0.27	19
rs2157719	CDKN2B-AS1	0.708	0.360	9	22033367	non coding transcript exon variant	C/T	snv		0.71	17
rs3807987	CAV1	0.732	0.280	7	116539780	intron variant	G/A	snv		7.6E-02	17
rs7003908	PRKDC	0.716	0.320	8	47858141	intron variant	C/A	snv		0.66	16
rs61330082	NAMPT	0.732	0.320	7	106286419	upstream gene variant	G/A	snv		0.22	13
rs10511729	LOC101929563	0.742	0.240	9	23557229	intron variant	T/G	snv		0.35	11
rs10811474		0.742	0.240	9	21114238	intergenic variant	A/G	snv		0.44	11
rs12683422	LINGO2	0.742	0.240	9	27969442	intron variant	C/T	snv		5.7E-02	11