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rs587776548

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TTATA;TTATA) 0 common in clinvar
Make rs587776548(-;-)
Make rs587776548(-;TTATA)
ReferenceGRCh38 38.1/142
Chromosome11
Position108332856
GeneATM, C11orf65
is asnp
is mentioned by
dbSNPrs587776548
ebirs587776548
HLIrs587776548
Exacrs587776548
Varsomers587776548
Maprs587776548
PheGenIrs587776548
hapmaprs587776548
1000 genomesrs587776548
hgdprs587776548
ensemblrs587776548
gopubmedrs587776548
geneviewrs587776548
scholarrs587776548
googlers587776548
pharmgkbrs587776548
gwascentralrs587776548
openSNPrs587776548
23andMers587776548
23andMe allrs587776548
SNP Nexus

SNPshotrs587776548
SNPdbers587776548
MSV3drs587776548
GWAS Ctlgrs587776548
Max Magnitude0
ClinVar
Risk rs587776548(;)
Alt rs587776548(;)
Reference rs587776548(TTATA;TTATA)
Significance Pathogenic
Disease Ataxia-telangiectasia syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene C11orf65 ATM
CLNDBN Ataxia-telangiectasia syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000011.9:g.108203586_108203590delTATTA
CLNSRC OMIM Allelic Variant
CLNACC RCV000003171.3, RCV000222650.1,