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rs1057516599

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516599(-;-)
Make rs1057516599(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position108332853
GeneATM, C11orf65
is asnp
is mentioned by
dbSNPrs1057516599
dbSNP (old)rs1057516599
ClinGenrs1057516599
ebirs1057516599
HLIrs1057516599
Exacrs1057516599
Gnomadrs1057516599
Varsomers1057516599
Maprs1057516599
PheGenIrs1057516599
Biobankrs1057516599
1000 genomesrs1057516599
hgdprs1057516599
ensemblrs1057516599
gopubmedrs1057516599
geneviewrs1057516599
scholarrs1057516599
googlers1057516599
pharmgkbrs1057516599
gwascentralrs1057516599
openSNPrs1057516599
23andMers1057516599
23andMe allrs1057516599
SNPshotrs1057516599
SNPdbers1057516599
MSV3drs1057516599
GWAS Ctlgrs1057516599
Max Magnitude0
ClinVar
Risk rs1057516599(-;-)
Alt rs1057516599(-;-)
Reference Rs1057516599(A;A)
Significance Probable-Pathogenic
Disease Ataxia-telangiectasia syndrome
Variation info
Gene C11orf65 ATM
CLNDBN Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108203580delA
CLNSRC
CLNACC RCV000409111.1,