DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Mammary Neoplasms ×

Variants associated to the Gene: CHEK2 ×

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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
rs137853011	CHEK2	0.763	0.280	22	28695219	missense variant	G/A	snv	4.9E-04	2.6E-04	10
rs1555913881	CHEK2			22	28695841	frameshift variant	T/-	del			1
rs587780170	CHEK2	0.851	0.120	22	28695786	missense variant	C/A;G;T	snv	2.8E-05; 8.0E-06		1
rs786202676	CHEK2			22	28696956	missense variant	T/A;G	snv			1