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rs1057516446

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CAAA;CAAA) 0 common in clinvar
Make rs1057516446(-;-)
Make rs1057516446(-;AACA)
Make rs1057516446(AACA;AACA)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position108279557
GeneATM
is asnp
is mentioned by
dbSNPrs1057516446
dbSNP (old)rs1057516446
ClinGenrs1057516446
ebirs1057516446
HLIrs1057516446
Exacrs1057516446
Gnomadrs1057516446
Varsomers1057516446
Maprs1057516446
PheGenIrs1057516446
Biobankrs1057516446
1000 genomesrs1057516446
hgdprs1057516446
ensemblrs1057516446
gopubmedrs1057516446
geneviewrs1057516446
scholarrs1057516446
googlers1057516446
pharmgkbrs1057516446
gwascentralrs1057516446
openSNPrs1057516446
23andMers1057516446
23andMe allrs1057516446
SNPshotrs1057516446
SNPdbers1057516446
MSV3drs1057516446
GWAS Ctlgrs1057516446
Max Magnitude0
ClinVar
Risk rs1057516446(-;-)
Alt rs1057516446(-;-)
Reference Rs1057516446(CAAA;CAAA)
Significance Probable-Pathogenic
Disease Ataxia-telangiectasia syndrome
Variation info
Gene ATM
CLNDBN Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108150284_108150287delAACA
CLNSRC
CLNACC RCV000411536.1,