DisGeNET - a database of gene-disease associations

List of shared variants

Malignant neoplasm of breast, C0006142

Disease: Malignant tumor of colon

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
rs555607708	CHEK2	0.667	0.360	22	28695869	frameshift variant	G/-	del	2.0E-03	1.8E-03	33
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03		12
rs1801155	APC	0.649	0.440	5	112839514	missense variant	T/A	snv	8.0E-06; 2.0E-03	1.2E-03	10
rs138213197	HOXB13	0.701	0.240	17	48728343	missense variant	C/T	snv	1.8E-03	1.6E-03	6
rs587779157	MSH2	0.827	0.240	2	47408486	inframe deletion	GAAGTT/-	delins			6
rs587782705	TP53	0.807	0.280	17	7675157	missense variant	G/A	snv	8.0E-06		6
rs587778134	BRIP1	0.851	0.320	17	61776459	frameshift variant	AA/-;AAAA	delins			5
rs587779021	MLH1	0.851	0.200	3	37008905	missense variant	G/A;C	snv			3