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rs759965045

From SNPedia

Orientationplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs759965045(-;-)
Make rs759965045(-;AG)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position108331951
GeneATM, C11orf65
is asnp
is mentioned by
dbSNPrs759965045
ebirs759965045
HLIrs759965045
Exacrs759965045
Varsomers759965045
Maprs759965045
PheGenIrs759965045
hapmaprs759965045
1000 genomesrs759965045
hgdprs759965045
ensemblrs759965045
gopubmedrs759965045
geneviewrs759965045
scholarrs759965045
googlers759965045
pharmgkbrs759965045
gwascentralrs759965045
openSNPrs759965045
23andMers759965045
23andMe allrs759965045
SNP Nexus

SNPshotrs759965045
SNPdbers759965045
MSV3drs759965045
GWAS Ctlgrs759965045
Max Magnitude0
ClinVar
Risk rs759965045(;)
Alt rs759965045(;)
Reference rs759965045(AG;AG)
Significance Pathogenic
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.108202681_108202682delGA
CLNSRC
CLNACC RCV000204947.2, RCV000214581.1,