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rs772228129

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs772228129(C;G)
Make rs772228129(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position108331491
GeneATM, C11orf65
is asnp
is mentioned by
dbSNPrs772228129
dbSNP (classic)rs772228129
ClinGenrs772228129
ebirs772228129
HLIrs772228129
Exacrs772228129
Gnomadrs772228129
Varsomers772228129
LitVarrs772228129
Maprs772228129
PheGenIrs772228129
Biobankrs772228129
1000 genomesrs772228129
hgdprs772228129
ensemblrs772228129
geneviewrs772228129
scholarrs772228129
googlers772228129
pharmgkbrs772228129
gwascentralrs772228129
openSNPrs772228129
23andMers772228129
SNPshotrs772228129
SNPdbers772228129
MSV3drs772228129
GWAS Ctlgrs772228129
Max Magnitude0
ClinVar
Risk rs772228129(G;G) rs772228129(T;T)
Alt rs772228129(G;G) rs772228129(T;T)
Reference Rs772228129(C;C)
Significance Pathogenic
Disease Ataxia-telangiectasia syndrome
Variation info
Gene C11orf65 ATM
CLNDBN Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108202218C>G
CLNSRC
CLNACC RCV000230138.1,