ATR, ATR serine/threonine kinase, 545

N. diseases: 321; N. variants: 38
Disease: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906797
rs387906797
Entrez Id: 545
Gene Symbol: ATR
ATR
CUI: C3281203
Disease:
CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL 		0.800 GeneticVariation UNIPROT Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome. 22341969 2012
dbSNP: rs387906797
rs387906797
Entrez Id: 545
Gene Symbol: ATR
ATR
CUI: C3281203
Disease:
CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL 		C 0.800 CausalMutation CLINVAR