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rs228591

From SNPedia

Orientationminus
Stabilizedminus
Make rs228591(C;C)
Make rs228591(C;T)
Make rs228591(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position108226606
GeneATM
is asnp
is mentioned by
dbSNPrs228591
dbSNP (classic)rs228591
ClinGenrs228591
ebirs228591
HLIrs228591
Exacrs228591
Gnomadrs228591
Varsomers228591
LitVarrs228591
Maprs228591
PheGenIrs228591
Biobankrs228591
1000 genomesrs228591
hgdprs228591
ensemblrs228591
geneviewrs228591
scholarrs228591
googlers228591
pharmgkbrs228591
gwascentralrs228591
openSNPrs228591
23andMers228591
SNPshotrs228591
SNPdbers228591
MSV3drs228591
GWAS Ctlgrs228591
GMAF0.4757
Max Magnitude0
? (C;C) (C;T) (T;T) 28


[PMID 18451257] rs8178085 and rs12334811 with approaching dose-dependent effect on lung cancer predisposition, subjects carrying two to four risk genotypes were associated with a 43% decreased lung cancer risk compared with subjects carrying zero to one risk genotypes (adjusted odds ratio, 0.53; 95% confidence interval, 0.35-0.80).

rs228591 variant allele or ataxia-telangiectasia and Rad3-related rs6782400 wild-type homozygous genotype


[PMID 16091150OA-icon.png] Characterization of the linkage disequilibrium structure and identification of tagging-SNPs in five DNA repair genes.


[PMID 19276285OA-icon.png] Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.