DisGeNET - a database of gene-disease associations

List of associated variants

Hereditary Diffuse Gastric Cancer, C1708349

Source: CURATED ×

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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
rs587781290	CDH1	1.000	0.080	16	68808552	frameshift variant	-/A	delins			2
rs1555517100	CDH1	1.000	0.080	16	68823489	frameshift variant	-/C	delins			2
rs1555518221	CDH1	1.000	0.080	16	68833320	frameshift variant	-/C	delins			2
rs1375617541	CDH1	1.000	0.080	16	68829739	frameshift variant	-/C	delins	4.0E-06		1
rs1567501500	CDH1	1.000	0.080	16	68801874	frameshift variant	-/CCGCCCC	delins			1
rs878854690	CDH1	1.000	0.080	16	68801862	frameshift variant	-/G	delins			1
rs1555514406	CDH1	1.000	0.080	16	68801709	frameshift variant	-/T	delins			1
rs1555516200	CDH1	1.000	0.080	16	68815760	splice donor variant	-/T;TT	delins			2
rs1567513227	CDH1	1.000	0.080	16	68823452	frameshift variant	A/-	delins			1
rs864622655	CDH1	1.000	0.080	16	68808536	frameshift variant	A/-	delins			1
rs1555518210	CDH1	1.000	0.080	16	68833288	splice acceptor variant	A/G	snv			2
rs876660393	CDH1	1.000	0.080	16	68829652	splice acceptor variant	A/G	snv			2
rs1060501226	CDH1	1.000	0.080	16	68738295	splice acceptor variant	A/G	snv			1
rs1064794231	CDH1	1.000	0.080	16	68810240	missense variant	A/G	snv		7.0E-06	1
rs1555509622	CDH1	1.000	0.080	16	68737416	start lost	A/G	snv			1
rs1555515596	CDH1	1.000	0.080	16	68811682	splice acceptor variant	A/G	snv			1
rs1555516520	CDH1	1.000	0.080	16	68819278	splice acceptor variant	A/G	snv			1
rs1555518211	CDH1	1.000	0.080	16	68833296	stop gained	A/G;T	snv			2
rs876661106	CDH1	1.000	0.080	16	68801843	stop gained	A/G;T	snv	4.0E-06		1
rs1567504575	CDH1	1.000	0.080	16	68808493	stop gained	A/T	snv			1
rs1555515214	CDH1	1.000	0.080	16	68808493	frameshift variant	AAGA/-	del			2
rs1060501224	CDH1	1.000	0.080	16	68822180	frameshift variant	AC/-	delins			1
rs876659208	CDH1	1.000	0.080	16	68815666	frameshift variant	AG/-	delins			2
rs1555517074	CDH1	1.000	0.080	16	68823409	frameshift variant	AT/-;ATAT	delins			2
rs1555514492	CDH1	1.000	0.080	16	68801885	frameshift variant	C/-	delins			2