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rs1057516250

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516250(-;A)
Make rs1057516250(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position108271328
GeneATM
is asnp
is mentioned by
dbSNPrs1057516250
dbSNP (old)rs1057516250
ClinGenrs1057516250
ebirs1057516250
HLIrs1057516250
Exacrs1057516250
Gnomadrs1057516250
Varsomers1057516250
Maprs1057516250
PheGenIrs1057516250
Biobankrs1057516250
1000 genomesrs1057516250
hgdprs1057516250
ensemblrs1057516250
gopubmedrs1057516250
geneviewrs1057516250
scholarrs1057516250
googlers1057516250
pharmgkbrs1057516250
gwascentralrs1057516250
openSNPrs1057516250
23andMers1057516250
23andMe allrs1057516250
SNPshotrs1057516250
SNPdbers1057516250
MSV3drs1057516250
GWAS Ctlgrs1057516250
Max Magnitude0
ClinVar
Risk rs1057516250(A;A)
Alt rs1057516250(A;A)
Reference Rs1057516250(-;-)
Significance Probable-Pathogenic
Disease Ataxia-telangiectasia syndrome
Variation info
Gene ATM
CLNDBN Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108142055dupA
CLNSRC
CLNACC RCV000410197.1,