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rs121434219

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434219(C;T)
Make rs121434219(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position108365476
GeneATM, C11orf65
is asnp
is mentioned by
dbSNPrs121434219
ebirs121434219
HLIrs121434219
Exacrs121434219
Varsomers121434219
Maprs121434219
PheGenIrs121434219
hapmaprs121434219
1000 genomesrs121434219
hgdprs121434219
ensemblrs121434219
gopubmedrs121434219
geneviewrs121434219
scholarrs121434219
googlers121434219
pharmgkbrs121434219
gwascentralrs121434219
openSNPrs121434219
23andMers121434219
23andMe allrs121434219
SNP Nexus

SNPshotrs121434219
SNPdbers121434219
MSV3drs121434219
GWAS Ctlgrs121434219
Max Magnitude0
OMIM607585
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121434219(T;T)
Alt rs121434219(T;T)
Reference rs121434219(C;C)
Significance Pathogenic
Disease Ataxia-telangiectasia without immunodeficiency Ataxia-telangiectasia syndrome
Variation info
Gene C11orf65 ATM
CLNDBN Ataxia-telangiectasia without immunodeficiency Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108236203C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003168.3, RCV000199061.2,