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rs730881309

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 Breast cancer associated mutation
Make rs730881309(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position108289010
GeneATM
is asnp
is mentioned by
dbSNPrs730881309
dbSNP (classic)rs730881309
ClinGenrs730881309
ebirs730881309
HLIrs730881309
Exacrs730881309
Gnomadrs730881309
Varsomers730881309
LitVarrs730881309
Maprs730881309
PheGenIrs730881309
Biobankrs730881309
1000 genomesrs730881309
hgdprs730881309
ensemblrs730881309
geneviewrs730881309
scholarrs730881309
googlers730881309
pharmgkbrs730881309
gwascentralrs730881309
openSNPrs730881309
23andMers730881309
SNPshotrs730881309
SNPdbers730881309
MSV3drs730881309
GWAS Ctlgrs730881309
Max Magnitude6
ClinVar
Risk rs730881309(T;T)
Alt rs730881309(T;T)
Reference Rs730881309(-;-)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome not provided Ataxia-telangiectasia syndrome
Variation info
Gene ATM
CLNDBN Hereditary cancer-predisposing syndrome not provided Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108159737dupT
CLNSRC
CLNACC RCV000159639.5, RCV000235103.1, RCV000474345.1,