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rs587781971

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TCAG;TCAG) 0 common in clinvar
Make rs587781971(-;-)
Make rs587781971(-;TCAG)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position108279587
GeneATM
is asnp
is mentioned by
dbSNPrs587781971
dbSNP (classic)rs587781971
ClinGenrs587781971
ebirs587781971
HLIrs587781971
Exacrs587781971
Gnomadrs587781971
Varsomers587781971
LitVarrs587781971
Maprs587781971
PheGenIrs587781971
Biobankrs587781971
1000 genomesrs587781971
hgdprs587781971
ensemblrs587781971
geneviewrs587781971
scholarrs587781971
googlers587781971
pharmgkbrs587781971
gwascentralrs587781971
openSNPrs587781971
23andMers587781971
SNPshotrs587781971
SNPdbers587781971
MSV3drs587781971
GWAS Ctlgrs587781971
Max Magnitude0
ClinVar
Risk rs587781971(-;-)
Alt rs587781971(-;-)
Reference Rs587781971(TCAG;TCAG)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome
Variation info
Gene ATM
CLNDBN Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108150314_108150317delTCAG
CLNSRC
CLNACC RCV000130359.2, RCV000410669.1,