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rs1060501543

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs1060501543(-;-)
Make rs1060501543(-;AA)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position108325466
GeneATM, C11orf65
is asnp
is mentioned by
dbSNPrs1060501543
dbSNP (old)rs1060501543
ClinGenrs1060501543
ebirs1060501543
HLIrs1060501543
Exacrs1060501543
Gnomadrs1060501543
Varsomers1060501543
Maprs1060501543
PheGenIrs1060501543
Biobankrs1060501543
1000 genomesrs1060501543
hgdprs1060501543
ensemblrs1060501543
gopubmedrs1060501543
geneviewrs1060501543
scholarrs1060501543
googlers1060501543
pharmgkbrs1060501543
gwascentralrs1060501543
openSNPrs1060501543
23andMers1060501543
23andMe allrs1060501543
SNPshotrs1060501543
SNPdbers1060501543
MSV3drs1060501543
GWAS Ctlgrs1060501543
Max Magnitude0
ClinVar
Risk rs1060501543(-;-)
Alt rs1060501543(-;-)
Reference Rs1060501543(AA;AA)
Significance Pathogenic
Disease Ataxia-telangiectasia syndrome
Variation info
Gene C11orf65 ATM
CLNDBN Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108196193_108196194delAA
CLNSRC
CLNACC RCV000468442.1,