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rs730881300

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730881300(-;-)
Make rs730881300(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position108271105
GeneATM
is asnp
is mentioned by
dbSNPrs730881300
dbSNP (classic)rs730881300
ClinGenrs730881300
ebirs730881300
HLIrs730881300
Exacrs730881300
Gnomadrs730881300
Varsomers730881300
LitVarrs730881300
Maprs730881300
PheGenIrs730881300
Biobankrs730881300
1000 genomesrs730881300
hgdprs730881300
ensemblrs730881300
geneviewrs730881300
scholarrs730881300
googlers730881300
pharmgkbrs730881300
gwascentralrs730881300
openSNPrs730881300
23andMers730881300
SNPshotrs730881300
SNPdbers730881300
MSV3drs730881300
GWAS Ctlgrs730881300
Max Magnitude0
ClinVar
Risk rs730881300(-;-)
Alt rs730881300(-;-)
Reference Rs730881300(C;C)
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.108141832delC
CLNSRC
CLNACC RCV000159629.1, RCV000412201.1,