DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Neoplastic Syndromes, Hereditary ×

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
rs121908698	CHEK2	0.851	0.200	22	28725242	splice donor variant	C/A;T	snv	4.0E-06; 1.3E-04		7
rs137853007	CHEK2	0.790	0.240	22	28725254	missense variant	G/A;T	snv	5.2E-05		7
rs587780174	CHEK2	0.827	0.360	22	28695239	frameshift variant	A/-	delins	4.4E-05	5.6E-05	7
rs200917541	CHEK2	0.851	0.200	22	28725270	stop gained	G/A;T	snv			5
rs560596101	CHEK2	0.851	0.200	22	28725241	splice donor variant	A/C;G;T	snv	4.0E-06		5
rs587781705	CHEK2	0.851	0.200	22	28734506	stop gained	A/C	snv			5
rs587782401	CHEK2	0.851	0.200	22	28734401	splice donor variant	A/G;T	snv	4.0E-06; 6.8E-05		5
rs730881701	CHEK2	0.827	0.200	22	28725278	stop gained	G/A;C	snv	2.4E-05	7.0E-06	5
rs864622149	CHEK2	0.851	0.160	22	28710005	splice donor variant	C/A;G;T	snv			5
rs200432447	CHEK2	0.925	0.200	22	28687974	stop gained	G/A;C	snv	4.3E-06		4
rs786202497	CHEK2	0.882	0.200	22	28719423	frameshift variant	C/-	del			4
rs1060502716	CHEK2	1.000	0.080	22	28695874	splice acceptor variant	C/A;G;T	snv			3
rs121908702	CHEK2	0.882	0.120	22	28711986	stop gained	C/A;G;T	snv	8.0E-06; 4.0E-06; 7.6E-05		3
rs121908707	CHEK2	0.925	0.160	22	28695709	splice donor variant	C/A;G;T	snv			3
rs587781699	CHEK2	0.925	0.200	22	28703504	splice donor variant	C/A;G;T	snv			3
rs72552322	CHEK2	0.925	0.120	22	28725070	missense variant	C/T	snv	2.4E-05	7.0E-06	3
rs761494650	CHEK2	0.925	0.160	22	28734637	stop gained	G/A	snv	4.0E-06; 8.0E-06		3
rs1060502684	CHEK2	1.000	0.080	22	28695829	frameshift variant	AG/-	delins			2
rs1131691044	CHEK2	1.000	0.080	22	28711939	frameshift variant	C/-;CC	delins			2
rs1131691045	CHEK2	1.000	0.080	22	28689176	frameshift variant	C/-	del			2
rs1225437533	CHEK2	1.000	0.080	22	28725091	frameshift variant	T/-	del			2
rs1231012263	CHEK2	1.000	0.080	22	28734622	stop gained	G/A	snv			2