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rs1057517452

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517452(-;-)
Make rs1057517452(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position108293396
GeneATM
is asnp
is mentioned by
dbSNPrs1057517452
dbSNP (classic)rs1057517452
ClinGenrs1057517452
ebirs1057517452
HLIrs1057517452
Exacrs1057517452
Gnomadrs1057517452
Varsomers1057517452
LitVarrs1057517452
Maprs1057517452
PheGenIrs1057517452
Biobankrs1057517452
1000 genomesrs1057517452
hgdprs1057517452
ensemblrs1057517452
geneviewrs1057517452
scholarrs1057517452
googlers1057517452
pharmgkbrs1057517452
gwascentralrs1057517452
openSNPrs1057517452
23andMers1057517452
SNPshotrs1057517452
SNPdbers1057517452
MSV3drs1057517452
GWAS Ctlgrs1057517452
Max Magnitude0
ClinVar
Risk rs1057517452(-;-)
Alt rs1057517452(-;-)
Reference Rs1057517452(T;T)
Significance Probable-Pathogenic
Disease Ataxia-telangiectasia syndrome
Variation info
Gene ATM
CLNDBN Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108164123delT
CLNSRC
CLNACC RCV000411883.1,