DisGeNET - a database of gene-disease associations

List of associated variants

Li-Fraumeni Syndrome 2, C1836482

Source: ALL

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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		53
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	16
rs137853007	CHEK2	0.790	0.240	22	28725254	missense variant	G/A;T	snv	5.2E-05		9
rs121908698	CHEK2	0.851	0.200	22	28725242	splice donor variant	C/A;T	snv	4.0E-06; 1.3E-04		7
rs730881701	CHEK2	0.827	0.200	22	28725278	stop gained	G/A;C	snv	2.4E-05	7.0E-06	6
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
rs587782471	CHEK2	0.851	0.240	22	28711994	missense variant	A/G;T	snv	3.5E-04; 8.0E-06		4