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rs1057516393

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516393(-;T)
Make rs1057516393(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position108256255
GeneATM
is asnp
is mentioned by
dbSNPrs1057516393
dbSNP (old)rs1057516393
ClinGenrs1057516393
ebirs1057516393
HLIrs1057516393
Exacrs1057516393
Gnomadrs1057516393
Varsomers1057516393
Maprs1057516393
PheGenIrs1057516393
Biobankrs1057516393
1000 genomesrs1057516393
hgdprs1057516393
ensemblrs1057516393
gopubmedrs1057516393
geneviewrs1057516393
scholarrs1057516393
googlers1057516393
pharmgkbrs1057516393
gwascentralrs1057516393
openSNPrs1057516393
23andMers1057516393
23andMe allrs1057516393
SNPshotrs1057516393
SNPdbers1057516393
MSV3drs1057516393
GWAS Ctlgrs1057516393
Max Magnitude0
ClinVar
Risk rs1057516393(T;T)
Alt rs1057516393(T;T)
Reference Rs1057516393(-;-)
Significance Probable-Pathogenic
Disease Ataxia-telangiectasia syndrome
Variation info
Gene ATM
CLNDBN Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108126982dupT
CLNSRC
CLNACC RCV000409458.1,