DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Malignant neoplasm of breast ×

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
rs16260	CDH1	0.716	0.440	16	68737131	upstream gene variant	C/A	snv		0.24	19
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
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
rs7198799	CDH1	0.882	0.120	16	68784487	intron variant	C/T	snv		0.27	3
rs7200690	CDH1	0.925	0.080	16	68744554	intron variant	C/T	snv		0.23	2
rs786202482	CDH1	0.925	0.080	16	68815678	missense variant	T/C	snv		2.1E-05	2
rs869312765	CDH1	1.000	0.080	16	68815697	frameshift variant	G/-	delins			2
rs200932258	CDH1	1.000	0.080	16	68811697	missense variant	G/A;T	snv	7.6E-05		1
rs372989292	CDH1	1.000	0.080	16	68829687	missense variant	G/A	snv	1.2E-04	1.5E-04	1