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rs730881294

From SNPedia

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Geno Mag Summary
(ATAAG;ATAAG) 0 common in clinvar
Make rs730881294(-;-)
Make rs730881294(-;ATAAG)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position108335957
GeneATM, C11orf65
is asnp
is mentioned by
dbSNPrs730881294
ebirs730881294
HLIrs730881294
Exacrs730881294
Varsomers730881294
Maprs730881294
PheGenIrs730881294
hapmaprs730881294
1000 genomesrs730881294
hgdprs730881294
ensemblrs730881294
gopubmedrs730881294
geneviewrs730881294
scholarrs730881294
googlers730881294
pharmgkbrs730881294
gwascentralrs730881294
openSNPrs730881294
23andMers730881294
23andMe allrs730881294
SNP Nexus

SNPshotrs730881294
SNPdbers730881294
MSV3drs730881294
GWAS Ctlgrs730881294
Max Magnitude0
ClinVar
Risk rs730881294(;)
Alt rs730881294(;)
Reference rs730881294(ATAAG;ATAAG)
Significance Pathogenic
Disease not provided Ataxia-telangiectasia syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene C11orf65 ATM
CLNDBN not provided Ataxia-telangiectasia syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000011.9:g.108206684_108206688delATAAG
CLNSRC University Hospital of Geneva
CLNACC RCV000159623.3, RCV000190640.3, RCV000221664.1,