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rs730881301

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TTC;TTC) 0 common in clinvar
Make rs730881301(GCCAA;GCCAA)
Make rs730881301(GCCAA;TTC)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position108271122
GeneATM
is asnp
is mentioned by
dbSNPrs730881301
dbSNP (classic)rs730881301
ClinGenrs730881301
ebirs730881301
HLIrs730881301
Exacrs730881301
Gnomadrs730881301
Varsomers730881301
LitVarrs730881301
Maprs730881301
PheGenIrs730881301
Biobankrs730881301
1000 genomesrs730881301
hgdprs730881301
ensemblrs730881301
geneviewrs730881301
scholarrs730881301
googlers730881301
pharmgkbrs730881301
gwascentralrs730881301
openSNPrs730881301
23andMers730881301
SNPshotrs730881301
SNPdbers730881301
MSV3drs730881301
GWAS Ctlgrs730881301
Max Magnitude0
ClinVar
Risk rs730881301(GCCAA;GCCAA)
Alt rs730881301(GCCAA;GCCAA)
Reference Rs730881301(TTC;TTC)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome
Variation info
Gene ATM
CLNDBN Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000011.9:g.108141849_108141851delTTCinsGCCAA
CLNSRC
CLNACC RCV000159630.1,