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rs587776550

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TTGT;TTGT) 0 common in clinvar
Make rs587776550(-;-)
Make rs587776550(-;TTGT)
ReferenceGRCh38 38.1/142
Chromosome11
Position108333946
GeneATM, C11orf65
is asnp
is mentioned by
dbSNPrs587776550
ebirs587776550
HLIrs587776550
Exacrs587776550
Varsomers587776550
Maprs587776550
PheGenIrs587776550
hapmaprs587776550
1000 genomesrs587776550
hgdprs587776550
ensemblrs587776550
gopubmedrs587776550
geneviewrs587776550
scholarrs587776550
googlers587776550
pharmgkbrs587776550
gwascentralrs587776550
openSNPrs587776550
23andMers587776550
23andMe allrs587776550
SNP Nexus

SNPshotrs587776550
SNPdbers587776550
MSV3drs587776550
GWAS Ctlgrs587776550
Max Magnitude0
ClinVar
Risk rs587776550(;)
Alt rs587776550(;)
Reference rs587776550(TTGT;TTGT)
Significance Pathogenic
Disease Ataxia-telangiectasia syndrome
Variation info
Gene C11orf65 ATM
CLNDBN Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108204673_108204676delTTGT
CLNSRC OMIM Allelic Variant
CLNACC RCV000003173.4,