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rs1060501701

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060501701(-;-)
Make rs1060501701(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position108250798
GeneATM
is asnp
is mentioned by
dbSNPrs1060501701
dbSNP (classic)rs1060501701
ClinGenrs1060501701
ebirs1060501701
HLIrs1060501701
Exacrs1060501701
Gnomadrs1060501701
Varsomers1060501701
LitVarrs1060501701
Maprs1060501701
PheGenIrs1060501701
Biobankrs1060501701
1000 genomesrs1060501701
hgdprs1060501701
ensemblrs1060501701
geneviewrs1060501701
scholarrs1060501701
googlers1060501701
pharmgkbrs1060501701
gwascentralrs1060501701
openSNPrs1060501701
23andMers1060501701
SNPshotrs1060501701
SNPdbers1060501701
MSV3drs1060501701
GWAS Ctlgrs1060501701
Max Magnitude0
ClinVar
Risk rs1060501701(-;-)
Alt rs1060501701(-;-)
Reference Rs1060501701(C;C)
Significance Pathogenic
Disease Ataxia-telangiectasia syndrome
Variation info
Gene ATM
CLNDBN Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108121525delC
CLNSRC
CLNACC RCV000465109.1,