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rs1057516311

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516311(C;T)
Make rs1057516311(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position108289611
GeneATM
is asnp
is mentioned by
dbSNPrs1057516311
dbSNP (old)rs1057516311
ClinGenrs1057516311
ebirs1057516311
HLIrs1057516311
Exacrs1057516311
Gnomadrs1057516311
Varsomers1057516311
Maprs1057516311
PheGenIrs1057516311
Biobankrs1057516311
1000 genomesrs1057516311
hgdprs1057516311
ensemblrs1057516311
gopubmedrs1057516311
geneviewrs1057516311
scholarrs1057516311
googlers1057516311
pharmgkbrs1057516311
gwascentralrs1057516311
openSNPrs1057516311
23andMers1057516311
23andMe allrs1057516311
SNPshotrs1057516311
SNPdbers1057516311
MSV3drs1057516311
GWAS Ctlgrs1057516311
Max Magnitude0
ClinVar
Risk rs1057516311(T;T)
Alt rs1057516311(T;T)
Reference Rs1057516311(C;C)
Significance Probable-Pathogenic
Disease Ataxia-telangiectasia syndrome
Variation info
Gene ATM
CLNDBN Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108160338C>T
CLNSRC
CLNACC RCV000411659.1,