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rs587782444

From SNPedia

Merged intors587776547
Orientationplus
Stabilizedplus
Geno Mag Summary
(TCTAGAATT;TCTAGAATT) 0 common in clinvar
Make rs587782444(-;-)
Make rs587782444(-;TAGAATTTC)
Make rs587782444(TAGAATTTC;TAGAATTTC)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position108331887
GeneATM, C11orf65
is asnp
is mentioned by
dbSNPrs587782444
ClinGenrs587782444
ebirs587782444
HLIrs587782444
Exacrs587782444
Varsomers587782444
Maprs587782444
PheGenIrs587782444
hapmaprs587782444
1000 genomesrs587782444
hgdprs587782444
ensemblrs587782444
gopubmedrs587782444
geneviewrs587782444
scholarrs587782444
googlers587782444
pharmgkbrs587782444
gwascentralrs587782444
openSNPrs587782444
23andMers587782444
23andMe allrs587782444
SNP Nexus

SNPshotrs587782444
SNPdbers587782444
MSV3drs587782444
GWAS Ctlgrs587782444
StatusMerged into rs587776547
Max Magnitude0
Mentioned as a pathogenic/likely pathogenic mutation associated with cancer predisposition in [PMID 26681312OA-icon.png]
ClinVar
Risk
Alt
Reference Rs587782444(TCTAGAATT;TCTAGAATT)
Significance Pathogenic
Disease Ataxia-telangiectasia T-cell prolymphocytic leukemia Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not provided
Variation info
Gene C11orf65 ATM
CLNDBN Ataxia-telangiectasia, complementation group E T-cell prolymphocytic leukemia Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not provided
Reversed 0
HGVS NC_000011.9:g.108202614_108202622delTAGAATTTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000003155.3, RCV000003163.5, RCV000185637.3, RCV000206671.2, RCV000212075.3,