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rs1057516721

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs1057516721(-;-)
Make rs1057516721(-;TT)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position108251970
GeneATM
is asnp
is mentioned by
dbSNPrs1057516721
dbSNP (old)rs1057516721
ClinGenrs1057516721
ebirs1057516721
HLIrs1057516721
Exacrs1057516721
Gnomadrs1057516721
Varsomers1057516721
Maprs1057516721
PheGenIrs1057516721
Biobankrs1057516721
1000 genomesrs1057516721
hgdprs1057516721
ensemblrs1057516721
gopubmedrs1057516721
geneviewrs1057516721
scholarrs1057516721
googlers1057516721
pharmgkbrs1057516721
gwascentralrs1057516721
openSNPrs1057516721
23andMers1057516721
23andMe allrs1057516721
SNPshotrs1057516721
SNPdbers1057516721
MSV3drs1057516721
GWAS Ctlgrs1057516721
Max Magnitude0
ClinVar
Risk rs1057516721(-;-)
Alt rs1057516721(-;-)
Reference Rs1057516721(TT;TT)
Significance Probable-Pathogenic
Disease Ataxia-telangiectasia syndrome
Variation info
Gene ATM
CLNDBN Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108122697_108122698delTT
CLNSRC
CLNACC RCV000411456.1,