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rs1057516683

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516683(-;-)
Make rs1057516683(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position108244044
GeneATM
is asnp
is mentioned by
dbSNPrs1057516683
dbSNP (old)rs1057516683
ClinGenrs1057516683
ebirs1057516683
HLIrs1057516683
Exacrs1057516683
Gnomadrs1057516683
Varsomers1057516683
Maprs1057516683
PheGenIrs1057516683
Biobankrs1057516683
1000 genomesrs1057516683
hgdprs1057516683
ensemblrs1057516683
gopubmedrs1057516683
geneviewrs1057516683
scholarrs1057516683
googlers1057516683
pharmgkbrs1057516683
gwascentralrs1057516683
openSNPrs1057516683
23andMers1057516683
23andMe allrs1057516683
SNPshotrs1057516683
SNPdbers1057516683
MSV3drs1057516683
GWAS Ctlgrs1057516683
Max Magnitude0
ClinVar
Risk rs1057516683(-;-)
Alt rs1057516683(-;-)
Reference Rs1057516683(A;A)
Significance Probable-Pathogenic
Disease Ataxia-telangiectasia syndrome
Variation info
Gene ATM
CLNDBN Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108114771delA
CLNSRC
CLNACC RCV000411087.1,