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
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03		12
rs555607708	CHEK2	0.667	0.360	22	28695869	frameshift variant	G/-	del	2.0E-03	1.8E-03	33
rs137853011	CHEK2	0.763	0.280	22	28695219	missense variant	G/A	snv	4.9E-04	2.6E-04	10
rs142763740	CHEK2	1.000	0.080	22	28694066	missense variant	G/A;C;T	snv	3.3E-04	3.1E-04	2
rs141568342	CHEK2	1.000	0.080	22	28734532	missense variant	C/T	snv	1.6E-04	1.5E-04	1
rs536907995	CHEK2	0.882	0.120	22	28734664	stop gained	G/A	snv	1.4E-04	2.8E-05	2
rs121908698	CHEK2	0.851	0.200	22	28725242	splice donor variant	C/A;T	snv	4.0E-06; 1.3E-04		7
rs28909982	CHEK2	0.925	0.080	22	28725338	missense variant	T/C	snv	1.2E-04	9.1E-05	2
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
rs587782401	CHEK2	0.851	0.200	22	28734401	splice donor variant	A/G;T	snv	4.0E-06; 6.8E-05		5
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
rs587780192	CHEK2	0.925	0.080	22	28699929	missense variant	C/G;T	snv	4.4E-05; 4.0E-06		1
rs764884641	CHEK2			22	28709999	splice donor variant	TTAC/-	delins	2.8E-05	2.1E-05	1
rs200928781	CHEK2	0.752	0.240	22	28695800	missense variant	T/A;C;G	snv	2.4E-05		2
rs587782070	CHEK2	1.000	0.080	22	28734443	stop gained	C/T	snv	2.4E-05		2
rs730881701	CHEK2	0.827	0.200	22	28725278	stop gained	G/A;C	snv	2.4E-05	7.0E-06	5
rs72552322	CHEK2	0.925	0.120	22	28725070	missense variant	C/T	snv	2.4E-05	7.0E-06	3
rs730881700	CHEK2	1.000	0.080	22	28695133	frameshift variant	-/T	delins	2.0E-05	3.5E-05	2
rs587782245	CHEK2	1.000	0.080	22	28724978	frameshift variant	T/-	delins	2.0E-05	2.1E-05	2
rs750616657	CHEK2			22	28719413	frameshift variant	-/TGAT	delins	1.8E-05; 1.3E-05		1
rs876659250	CHEK2			22	28694034	stop gained	G/A	snv	1.7E-05		1
rs730881687	CHEK2	1.000	0.080	22	28710060	splice acceptor variant	C/A;T	snv	1.2E-05; 1.6E-05		2
rs587782766	CHEK2	1.000	0.080	22	28734475	frameshift variant	G/-	delins	1.6E-05	7.0E-06	2
rs767253467	CHEK2			22	28719449	stop gained	G/A;C	snv	1.3E-05		1