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rs1060501679

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TAG;TAG) 0 common in clinvar
Make rs1060501679(AA;AA)
Make rs1060501679(AA;TAG)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position108268425
GeneATM
is asnp
is mentioned by
dbSNPrs1060501679
dbSNP (old)rs1060501679
ClinGenrs1060501679
ebirs1060501679
HLIrs1060501679
Exacrs1060501679
Gnomadrs1060501679
Varsomers1060501679
Maprs1060501679
PheGenIrs1060501679
Biobankrs1060501679
1000 genomesrs1060501679
hgdprs1060501679
ensemblrs1060501679
gopubmedrs1060501679
geneviewrs1060501679
scholarrs1060501679
googlers1060501679
pharmgkbrs1060501679
gwascentralrs1060501679
openSNPrs1060501679
23andMers1060501679
23andMe allrs1060501679
SNPshotrs1060501679
SNPdbers1060501679
MSV3drs1060501679
GWAS Ctlgrs1060501679
Max Magnitude0
ClinVar
Risk rs1060501679(AA;AA)
Alt rs1060501679(AA;AA)
Reference Rs1060501679(TAG;TAG)
Significance Pathogenic
Disease Ataxia-telangiectasia syndrome
Variation info
Gene ATM
CLNDBN Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108139152_108139154delTAGinsAA
CLNSRC
CLNACC RCV000473232.1,