CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
Disease: Li-Fraumeni Syndrome 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853007
rs137853007
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1836482
Disease:
Li-Fraumeni Syndrome 2 		0.800 GeneticVariation UNIPROT Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. 11719428 2001
dbSNP: rs137853007
rs137853007
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1836482
Disease:
Li-Fraumeni Syndrome 2 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121908698
rs121908698
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1836482
Disease:
Li-Fraumeni Syndrome 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs137853011
rs137853011
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1836482
Disease:
Li-Fraumeni Syndrome 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs17879961
rs17879961
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1836482
Disease:
Li-Fraumeni Syndrome 2 		G 0.700 CausalMutation CLINVAR
dbSNP: rs200917541
rs200917541
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1836482
Disease:
Li-Fraumeni Syndrome 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs555607708
rs555607708
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1836482
Disease:
Li-Fraumeni Syndrome 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs560596101
rs560596101
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1836482
Disease:
Li-Fraumeni Syndrome 2 		G 0.700 CausalMutation CLINVAR
dbSNP: rs587781705
rs587781705
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1836482
Disease:
Li-Fraumeni Syndrome 2 		C 0.700 CausalMutation CLINVAR
dbSNP: rs587782401
rs587782401
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1836482
Disease:
Li-Fraumeni Syndrome 2 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs587782471
rs587782471
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1836482
Disease:
Li-Fraumeni Syndrome 2 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs730881701
rs730881701
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1836482
Disease:
Li-Fraumeni Syndrome 2 		A 0.700 CausalMutation CLINVAR