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
rs1789903	ADH1C ; ADH1B	1.000	0.080	4	99340884	intron variant	C/A;G	snv			1
rs3805322	ADH4 ; LOC100507053	1.000	0.080	4	99135847	intron variant	A/G	snv		1.1E-02	2
rs2494752	AKT1	0.790	0.120	14	104797271	upstream gene variant	A/G	snv		0.85	10
rs1200003171	AKT1	0.882	0.120	14	104775122	missense variant	C/A;T	snv	8.0E-06		4
rs7254617	AKT2	0.882	0.120	19	40285605	upstream gene variant	G/A;C;T	snv			5
rs2304186	AKT2	0.925	0.160	19	40233814	3 prime UTR variant	G/T	snv		0.39	2
rs764058037	AKT2	1.000	0.080	19	40241984	missense variant	C/A;T	snv	1.2E-05; 8.0E-06		1
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs201745983	ALDH2	0.752	0.200	12	111783219	missense variant	G/A	snv	6.8E-05	7.7E-05	14
rs886205	ALDH2	0.827	0.360	12	111766623	intron variant	A/G	snv		0.35	8
rs13182402	ALDH7A1	0.925	0.160	5	126582456	intron variant	A/G	snv		0.15	4
rs1126667	ALOX12 ; ALOX12-AS1	0.776	0.280	17	6999441	missense variant	A/G	snv	0.60	0.62	8
rs3804329	ATG5	1.000	0.080	6	106238552	intron variant	A/G	snv		0.15	2
rs1322178	ATG5	1.000	0.080	6	106183905	intron variant	C/T	snv		0.15	1
rs671116	ATG5	1.000	0.080	6	106312722	intron variant	A/G	snv		0.41	1
rs664677	ATM	0.807	0.160	11	108272455	intron variant	C/A;T	snv		0.65	8
rs1642764	ATP1B2	1.000	0.080	17	7654516	intron variant	C/T	snv		0.45	1
rs2273535	AURKA	0.645	0.360	20	56386485	missense variant	A/C;T	snv	0.28		38
rs1009316	BAX	1.000	0.080	19	48955313	non coding transcript exon variant	T/C;G	snv			1
rs2279115	BCL2	0.724	0.320	18	63319604	5 prime UTR variant	G/A;T	snv			18
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
rs799917	BRCA1	0.708	0.320	17	43092919	missense variant	G/A;C;T	snv	0.40; 1.6E-05		18
rs16941	BRCA1	0.827	0.240	17	43092418	missense variant	T/C;G	snv	0.35		7
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	43