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
rs1346554630	CHEK2	1.000	0.080	22	28719461	frameshift variant	CA/-	delins	4.3E-06		2
rs142763740	CHEK2	1.000	0.080	22	28694066	missense variant	G/A;C;T	snv	3.3E-04	3.1E-04	2
rs1483241325	CHEK2	1.000	0.080	22	28695125	splice donor variant	A/T	snv		7.0E-06	2
rs1555913106	CHEK2	1.000	0.080	22	28694058	stop gained	C/A	snv			2
rs1555913645	CHEK2	1.000	0.080	22	28695723	stop gained	TAACTCCTA/CTCCT	delins			2
rs1555915295	CHEK2	1.000	0.080	22	28699836	splice donor variant	A/C	snv			2
rs1555915298	CHEK2	1.000	0.080	22	28699837	splice donor variant	C/A;T	snv			2
rs1555915589	CHEK2	1.000	0.080	22	28699939	splice acceptor variant	T/C	snv			2
rs200928781	CHEK2	0.752	0.240	22	28695800	missense variant	T/A;C;G	snv	2.4E-05		2
rs28909982	CHEK2	0.925	0.080	22	28725338	missense variant	T/C	snv	1.2E-04	9.1E-05	2
rs371418985	CHEK2	1.000	0.080	22	28695737	stop gained	C/T	snv	8.0E-06		2
rs536907995	CHEK2	0.882	0.120	22	28734664	stop gained	G/A	snv	1.4E-04	2.8E-05	2
rs545982789	CHEK2	1.000	0.080	22	28711907	splice donor variant	A/G	snv	4.0E-06; 4.0E-06	7.0E-06	2
rs587781269	CHEK2	1.000	0.080	22	28734439	stop gained	G/A;C	snv	8.0E-06	2.8E-05	2
rs587781592	CHEK2	1.000	0.080	22	28734571	stop gained	G/A;T	snv	4.0E-06		2
rs587782070	CHEK2	1.000	0.080	22	28734443	stop gained	C/T	snv	2.4E-05		2
rs587782245	CHEK2	1.000	0.080	22	28724978	frameshift variant	T/-	delins	2.0E-05	2.1E-05	2
rs587782575	CHEK2	1.000	0.080	22	28689217	splice acceptor variant	T/C	snv	4.3E-06		2
rs587782766	CHEK2	1.000	0.080	22	28734475	frameshift variant	G/-	delins	1.6E-05	7.0E-06	2
rs730881687	CHEK2	1.000	0.080	22	28710060	splice acceptor variant	C/A;T	snv	1.2E-05; 1.6E-05		2
rs730881699	CHEK2	1.000	0.080	22	28725282	frameshift variant	T/-	delins			2
rs730881700	CHEK2	1.000	0.080	22	28695133	frameshift variant	-/T	delins	2.0E-05	3.5E-05	2
rs748005072	CHEK2	1.000	0.080	22	28703511	frameshift variant	A/-	delins	4.9E-06		2
rs753159426	CHEK2	1.000	0.080	22	28695781	frameshift variant	A/-	delins	4.0E-06		2
rs758677815	CHEK2	1.000	0.080	22	28695805	frameshift variant	G/-;GG;GGG;GGGG	delins			2