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rs1057516981

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516981(A;T)
Make rs1057516981(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position108281133
GeneATM
is asnp
is mentioned by
dbSNPrs1057516981
dbSNP (classic)rs1057516981
ClinGenrs1057516981
ebirs1057516981
HLIrs1057516981
Exacrs1057516981
Gnomadrs1057516981
Varsomers1057516981
LitVarrs1057516981
Maprs1057516981
PheGenIrs1057516981
Biobankrs1057516981
1000 genomesrs1057516981
hgdprs1057516981
ensemblrs1057516981
geneviewrs1057516981
scholarrs1057516981
googlers1057516981
pharmgkbrs1057516981
gwascentralrs1057516981
openSNPrs1057516981
23andMers1057516981
23andMe allrs1057516981
SNPshotrs1057516981
SNPdbers1057516981
MSV3drs1057516981
GWAS Ctlgrs1057516981
Max Magnitude0
ClinVar
Risk rs1057516981(T;T)
Alt rs1057516981(T;T)
Reference Rs1057516981(A;A)
Significance Probable-Pathogenic
Disease Ataxia-telangiectasia syndrome
Variation info
Gene ATM
CLNDBN Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108151860A>T
CLNSRC
CLNACC RCV000412416.1,