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rs387906797

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906797(A;G)
Make rs387906797(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position142469458
GeneATR
is asnp
is mentioned by
dbSNPrs387906797
dbSNP (classic)rs387906797
ClinGenrs387906797
ebirs387906797
HLIrs387906797
Exacrs387906797
Gnomadrs387906797
Varsomers387906797
LitVarrs387906797
Maprs387906797
PheGenIrs387906797
Biobankrs387906797
1000 genomesrs387906797
hgdprs387906797
ensemblrs387906797
geneviewrs387906797
scholarrs387906797
googlers387906797
pharmgkbrs387906797
gwascentralrs387906797
openSNPrs387906797
23andMers387906797
SNPshotrs387906797
SNPdbers387906797
MSV3drs387906797
GWAS Ctlgrs387906797
Max Magnitude0
ClinVar
Risk rs387906797(G;G)
Alt rs387906797(G;G)
Reference Rs387906797(A;A)
Significance Pathogenic
Disease Cutaneous telangiectasia and cancer syndrome
Variation info
Gene ATR
CLNDBN Cutaneous telangiectasia and cancer syndrome, familial
Reversed 1
HGVS NC_000003.11:g.142188300T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023082.3,