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rs1057516541

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516541(-;A)
Make rs1057516541(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position108284360
GeneATM
is asnp
is mentioned by
dbSNPrs1057516541
dbSNP (classic)rs1057516541
ClinGenrs1057516541
ebirs1057516541
HLIrs1057516541
Exacrs1057516541
Gnomadrs1057516541
Varsomers1057516541
LitVarrs1057516541
Maprs1057516541
PheGenIrs1057516541
Biobankrs1057516541
1000 genomesrs1057516541
hgdprs1057516541
ensemblrs1057516541
geneviewrs1057516541
scholarrs1057516541
googlers1057516541
pharmgkbrs1057516541
gwascentralrs1057516541
openSNPrs1057516541
23andMers1057516541
23andMe allrs1057516541
SNPshotrs1057516541
SNPdbers1057516541
MSV3drs1057516541
GWAS Ctlgrs1057516541
Max Magnitude0
ClinVar
Risk rs1057516541(A;A)
Alt rs1057516541(A;A)
Reference Rs1057516541(-;-)
Significance Probable-Pathogenic
Disease Ataxia-telangiectasia syndrome
Variation info
Gene ATM
CLNDBN Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108155087dupA
CLNSRC
CLNACC RCV000410605.1,