DisGeNET - a database of gene-disease associations

List of associated variants

Esophageal carcinoma, C0152018

Source: CLINVAR ×

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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
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			1
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	1
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		45
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	3
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		39
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		34
rs104894229	LRRC56 ; HRAS	0.564	0.600	11	534289	missense variant	C/A;G;T	snv			52
rs104894230	HRAS ; LRRC56	0.564	0.600	11	534288	missense variant	C/A;G;T	snv			36
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		42
rs121912651	TP53	0.605	0.680	17	7674221	missense variant	G/A;C	snv	4.0E-06		37
rs121913273	PIK3CA	0.605	0.440	3	179218294	missense variant	G/A;C	snv			21
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		29
rs121913281	PIK3CA	0.623	0.520	3	179234296	missense variant	C/T	snv			37
rs727503094	LRRC56 ; HRAS	0.633	0.440	11	534287	missense variant	GC/AG;AT;TA;TT	mnv			1
rs397516436	TP53	0.641	0.440	17	7674894	stop gained	G/A;C	snv			26
rs28934575	TP53	0.641	0.400	17	7674230	missense variant	C/A;G;T	snv			25
rs886039484	TP53	0.641	0.440	17	7674888	missense variant	T/C;G	snv			10
rs121913274	PIK3CA	0.645	0.320	3	179218304	missense variant	A/C;G;T	snv			28
rs760043106	TP53	0.645	0.440	17	7674947	missense variant	A/C;G;T	snv			18
rs2273535	AURKA	0.645	0.360	20	56386485	missense variant	A/C;T	snv	0.28		1
rs1057519975	TP53	0.649	0.480	17	7675209	missense variant	A/C;G;T	snv			13
rs1801155	APC	0.649	0.440	5	112839514	missense variant	T/A	snv	8.0E-06; 2.0E-03	1.2E-03	10
rs2234767	FAS ; ACTA2	0.649	0.280	10	88989499	intron variant	G/A;T	snv	0.15		1
rs763110	FASLG	0.653	0.560	1	172658358	upstream gene variant	C/T	snv		0.49	1
rs28934574	TP53	0.658	0.440	17	7673776	missense variant	G/A;C	snv	4.0E-06		27