DisGeNET - a database of gene-disease associations

List of associated variants

Squamous cell carcinoma of esophagus, C0279626

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
rs17028973	LOC102723576	1.000	0.080	4	99401629	intergenic variant	T/C	snv		0.21	2
rs1789924	ADH1C	0.925	0.160	4	99353129	upstream gene variant	C/G;T	snv			5
rs1789903	ADH1C ; ADH1B	1.000	0.080	4	99340884	intron variant	C/A;G	snv			1
rs1614972	ADH1B ; ADH1C	0.925	0.160	4	99336998	intron variant	C/T	snv		0.38	4
rs1229984	ADH1B	0.570	0.560	4	99318162	missense variant	T/C;G	snv	0.90		83
rs1042026	ADH1B	1.000	0.080	4	99307309	3 prime UTR variant	T/C	snv		0.24	2
rs3805322	ADH4 ; LOC100507053	1.000	0.080	4	99135847	intron variant	A/G	snv		1.1E-02	2
rs531564	LINC00599 ; MIR124-1	0.672	0.480	8	9903189	non coding transcript exon variant	G/C	snv		0.14	27
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs759640288	PIK3CD	1.000	0.080	1	9720853	missense variant	G/A	snv	8.3E-06		1
rs3742330	DICER1	0.662	0.640	14	95087025	3 prime UTR variant	A/G	snv		8.7E-02	24
rs11187870	NOC3L ; PLCE1	1.000	0.080	10	94328109	3 prime UTR variant	G/C	snv		6.3E-02	1
rs2274223	PLCE1	0.620	0.400	10	94306584	missense variant	A/G	snv	0.28	0.31	40
rs3765524	PLCE1	0.724	0.320	10	94298541	missense variant	C/T	snv	0.27	0.31	17
rs71031566	PLCE1-AS1 ; PLCE1	1.000	0.080	10	94287212	non coding transcript exon variant	-/ATTT	ins		0.29	1
rs12263737	PLCE1-AS1 ; PLCE1	1.000	0.080	10	94285156	intron variant	G/A	snv		0.32	2
rs2274224	PLCE1-AS1 ; PLCE1	0.882	0.080	10	94279840	missense variant	G/A;C	snv	8.8E-05; 0.44		6
rs17417407	PLCE1	1.000	0.080	10	94171330	missense variant	G/A;T	snv	3.2E-05; 0.17		1
rs7922612	PLCE1	0.752	0.080	10	94051682	intron variant	C/T	snv		0.39	14
rs17109671	PLCE1	1.000	0.080	10	94031856	synonymous variant	T/C	snv	0.31	0.40	1
rs11599672	LOC105378438 ; PLCE1	0.925	0.080	10	93993019	regulatory region variant	T/G	snv		0.21	3
rs10882379	LOC105378438	1.000	0.080	10	93991742	intergenic variant	G/A;C	snv			1
rs829232	LOC105378438	1.000	0.080	10	93991070	intergenic variant	A/G;T	snv			1
rs6854472		1.000	0.080	4	89513521	intron variant	G/T	snv		0.30	1
rs1800682	ACTA2 ; FAS	0.637	0.440	10	88990206	non coding transcript exon variant	A/G	snv		0.54	32