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rs587776552

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GTAA;GTAA) 0 common in clinvar
Make rs587776552(-;-)
Make rs587776552(-;GTAA)
ReferenceGRCh38 38.1/142
Chromosome11
Position108270483
GeneATM
is asnp
is mentioned by
dbSNPrs587776552
dbSNP (classic)rs587776552
ClinGenrs587776552
ebirs587776552
HLIrs587776552
Exacrs587776552
Gnomadrs587776552
Varsomers587776552
LitVarrs587776552
Maprs587776552
PheGenIrs587776552
Biobankrs587776552
1000 genomesrs587776552
hgdprs587776552
ensemblrs587776552
geneviewrs587776552
scholarrs587776552
googlers587776552
pharmgkbrs587776552
gwascentralrs587776552
openSNPrs587776552
23andMers587776552
SNPshotrs587776552
SNPdbers587776552
MSV3drs587776552
GWAS Ctlgrs587776552
Max Magnitude0
ClinVar
Risk rs587776552(-;-)
Alt rs587776552(-;-)
Reference Rs587776552(GTAA;GTAA)
Significance Pathogenic
Disease Ataxia-telangiectasia syndrome
Variation info
Gene ATM
CLNDBN Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108141210_108141213delGTAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000003184.3,