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rs1057516229

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516229(C;C)
Make rs1057516229(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position108347367
GeneATM, C11orf65
is asnp
is mentioned by
dbSNPrs1057516229
dbSNP (old)rs1057516229
ClinGenrs1057516229
ebirs1057516229
HLIrs1057516229
Exacrs1057516229
Gnomadrs1057516229
Varsomers1057516229
Maprs1057516229
PheGenIrs1057516229
Biobankrs1057516229
1000 genomesrs1057516229
hgdprs1057516229
ensemblrs1057516229
gopubmedrs1057516229
geneviewrs1057516229
scholarrs1057516229
googlers1057516229
pharmgkbrs1057516229
gwascentralrs1057516229
openSNPrs1057516229
23andMers1057516229
23andMe allrs1057516229
SNPshotrs1057516229
SNPdbers1057516229
MSV3drs1057516229
GWAS Ctlgrs1057516229
Max Magnitude0
ClinVar
Risk rs1057516229(C;C)
Alt rs1057516229(C;C)
Reference Rs1057516229(T;T)
Significance Probable-Pathogenic
Disease Ataxia-telangiectasia syndrome
Variation info
Gene C11orf65 ATM
CLNDBN Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108218094T>C
CLNSRC
CLNACC RCV000411013.1,