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rs121434218

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434218(C;C)
Make rs121434218(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position108333925
GeneATM, C11orf65
is asnp
is mentioned by
dbSNPrs121434218
ebirs121434218
HLIrs121434218
Exacrs121434218
Varsomers121434218
Maprs121434218
PheGenIrs121434218
hapmaprs121434218
1000 genomesrs121434218
hgdprs121434218
ensemblrs121434218
gopubmedrs121434218
geneviewrs121434218
scholarrs121434218
googlers121434218
pharmgkbrs121434218
gwascentralrs121434218
openSNPrs121434218
23andMers121434218
23andMe allrs121434218
SNP Nexus

SNPshotrs121434218
SNPdbers121434218
MSV3drs121434218
GWAS Ctlgrs121434218
Max Magnitude0
OMIM607585
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121434218(C;C)
Alt rs121434218(C;C)
Reference rs121434218(T;T)
Significance Pathogenic
Disease Ataxia-telangiectasia without immunodeficiency
Variation info
Gene C11orf65 ATM
CLNDBN Ataxia-telangiectasia without immunodeficiency
Reversed 0
HGVS NC_000011.9:g.108204652T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003167.3,