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rs121434220

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434220(C;T)
Make rs121434220(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position108330233
GeneATM
is asnp
is mentioned by
dbSNPrs121434220
ebirs121434220
HLIrs121434220
Exacrs121434220
Varsomers121434220
Maprs121434220
PheGenIrs121434220
hapmaprs121434220
1000 genomesrs121434220
hgdprs121434220
ensemblrs121434220
gopubmedrs121434220
geneviewrs121434220
scholarrs121434220
googlers121434220
pharmgkbrs121434220
gwascentralrs121434220
openSNPrs121434220
23andMers121434220
23andMe allrs121434220
SNP Nexus

SNPshotrs121434220
SNPdbers121434220
MSV3drs121434220
GWAS Ctlgrs121434220
Max Magnitude0
OMIM607585
Desc
Variant0019
Relatedalso
ClinVar
Risk rs121434220(T;T)
Alt rs121434220(T;T)
Reference rs121434220(C;C)
Significance Other
Disease Ataxia-telangiectasia syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene C11orf65 ATM
CLNDBN Ataxia-telangiectasia syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000011.9:g.108200960C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003175.6, RCV000220229.1,