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rs1057517300

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517300(-;-)
Make rs1057517300(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position108252870
GeneATM
is asnp
is mentioned by
dbSNPrs1057517300
dbSNP (classic)rs1057517300
ClinGenrs1057517300
ebirs1057517300
HLIrs1057517300
Exacrs1057517300
Gnomadrs1057517300
Varsomers1057517300
LitVarrs1057517300
Maprs1057517300
PheGenIrs1057517300
Biobankrs1057517300
1000 genomesrs1057517300
hgdprs1057517300
ensemblrs1057517300
geneviewrs1057517300
scholarrs1057517300
googlers1057517300
pharmgkbrs1057517300
gwascentralrs1057517300
openSNPrs1057517300
23andMers1057517300
SNPshotrs1057517300
SNPdbers1057517300
MSV3drs1057517300
GWAS Ctlgrs1057517300
Max Magnitude0
ClinVar
Risk rs1057517300(-;-)
Alt rs1057517300(-;-)
Reference Rs1057517300(A;A)
Significance Probable-Pathogenic
Disease Ataxia-telangiectasia syndrome
Variation info
Gene ATM
CLNDBN Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108123597delA
CLNSRC
CLNACC RCV000409882.1,