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rs587776547

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TCTAGAATT;TCTAGAATT) 0 common in clinvar
Make rs587776547(-;-)
Make rs587776547(-;TCTAGAATT)
ReferenceGRCh38 38.1/142
Chromosome11
Position108331885
GeneATM, C11orf65
is asnp
is mentioned by
dbSNPrs587776547
ebirs587776547
HLIrs587776547
Exacrs587776547
Varsomers587776547
Maprs587776547
PheGenIrs587776547
hapmaprs587776547
1000 genomesrs587776547
hgdprs587776547
ensemblrs587776547
gopubmedrs587776547
geneviewrs587776547
scholarrs587776547
googlers587776547
pharmgkbrs587776547
gwascentralrs587776547
openSNPrs587776547
23andMers587776547
23andMe allrs587776547
SNP Nexus

SNPshotrs587776547
SNPdbers587776547
MSV3drs587776547
GWAS Ctlgrs587776547
Max Magnitude0
ClinVar
Risk rs587776547(;)
Alt rs587776547(;)
Reference rs587776547(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, RCV000185637.2, RCV000206671.2, RCV000212075.2,