DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Endometrial Carcinoma ×

Variants associated to the Gene: CDH1 ×

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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
rs587782798	CDH1	0.807	0.400	16	68813322	stop gained	C/T	snv			7
rs876658932	CDH1	0.807	0.400	16	68801726	stop gained	C/G;T	snv			7
rs13689	CDH1	0.851	0.120	16	68834619	3 prime UTR variant	T/A;C;G	snv			4
rs10431924	CDH1	0.882	0.120	16	68805399	intron variant	T/C	snv		0.45	3
rs12185157	CDH1	0.882	0.120	16	68750684	intron variant	G/A;C;T	snv			3
rs17715799	CDH1	0.882	0.120	16	68796608	intron variant	A/G;T	snv			3
rs10431923	CDH1	0.925	0.120	16	68805360	intron variant	G/T	snv		0.44	2
rs4783689	CDH1	0.925	0.080	16	68819768	intron variant	C/T	snv		0.30	2
rs6499199	CDH1	1.000	0.080	16	68815934	intron variant	C/T	snv		0.14	1