Have questions? Visit https://www.reddit.com/r/SNPedia

rs1800054

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common on affy axiom data
(C;G) 1.05 very slightly increased risk (1.05) for breast cancer
(G;G) 1.5 1.5x increased risk for breast cancer
ReferenceGRCh38 38.1/141
Chromosome11
Position108227849
GeneATM
is asnp
is mentioned by
dbSNPrs1800054
ebirs1800054
HLIrs1800054
Exacrs1800054
Varsomers1800054
Maprs1800054
PheGenIrs1800054
hapmaprs1800054
1000 genomesrs1800054
hgdprs1800054
ensemblrs1800054
gopubmedrs1800054
geneviewrs1800054
scholarrs1800054
googlers1800054
pharmgkbrs1800054
gwascentralrs1800054
openSNPrs1800054
23andMers1800054
23andMe allrs1800054
SNP Nexus

SNPshotrs1800054
SNPdbers1800054
MSV3drs1800054
GWAS Ctlgrs1800054
GMAF0.00551
Max Magnitude1.5
rs1800054, also known as S49C, is a SNP in the ATM gene.

A large meta-analysis published in 2011, comprising 26,000+ breast cancer cases and almost 30,000 controls from 23 studies in the Breast Cancer Association Consortium, found average odds ratios of 1.05 for heterozygotes and 1.51 for homozygotes of each of 5 ATM gene SNPs, of which this is one.[PMID 20826828OA-icon.png]

OMIM607585
Desc
Variant0032
Relatedalso


ClinVar
Risk rs1800054(G,T;G,T)
Alt rs1800054(G,T;G,T)
Reference rs1800054(C;C)
Significance Other
Disease Breast cancer Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome not specified not provided
Variation info
Gene ATM
CLNDBN Breast cancer, susceptibility to Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome not specified not provided
Reversed 0
HGVS NC_000011.9:g.108098576C>G; NC_000011.9:g.108098576C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003189.2, RCV000122818.4, RCV000128940.4, RCV000176968.1, RCV000224620.1, RCV000122819.1,



[PMID 17293864] A common coding variant in CASP8 is associated with breast cancer risk.

[PMID 17431766] Two-stage case-control study of common ATM gene variants in relation to breast cancer risk.

[PMID 20452958OA-icon.png] Single-nucleotide polymorphisms in the p53 signaling pathway.

[PMID 20605201OA-icon.png] Gene-environment interactions in 7610 women with breast cancer: prospective evidence from the Million Women Study.


GET Evidence
ATM-S49C
aa_change Ser49Cys
aa_change_short S49C
impact pathogenic
qualified_impact Low clinical importance, Uncertain pathogenic
overall_frequency 0.00995349
summary May be associated with a small increased risk of breast cancer.