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rs1057516525

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516525(C;C)
Make rs1057516525(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position108315913
GeneATM, C11orf65
is asnp
is mentioned by
dbSNPrs1057516525
dbSNP (old)rs1057516525
ClinGenrs1057516525
ebirs1057516525
HLIrs1057516525
Exacrs1057516525
Gnomadrs1057516525
Varsomers1057516525
Maprs1057516525
PheGenIrs1057516525
Biobankrs1057516525
1000 genomesrs1057516525
hgdprs1057516525
ensemblrs1057516525
gopubmedrs1057516525
geneviewrs1057516525
scholarrs1057516525
googlers1057516525
pharmgkbrs1057516525
gwascentralrs1057516525
openSNPrs1057516525
23andMers1057516525
23andMe allrs1057516525
SNPshotrs1057516525
SNPdbers1057516525
MSV3drs1057516525
GWAS Ctlgrs1057516525
Max Magnitude0
ClinVar
Risk rs1057516525(C;C)
Alt rs1057516525(C;C)
Reference Rs1057516525(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.108186640T>C
CLNSRC
CLNACC RCV000410313.1,