rs1801673
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
Make rs1801673(A;T) |
Make rs1801673(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 108304736 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs1801673 |
dbSNP (classic) | rs1801673 |
ClinGen | rs1801673 |
ebi | rs1801673 |
HLI | rs1801673 |
Exac | rs1801673 |
Gnomad | rs1801673 |
Varsome | rs1801673 |
LitVar | rs1801673 |
Map | rs1801673 |
PheGenI | rs1801673 |
Biobank | rs1801673 |
1000 genomes | rs1801673 |
hgdp | rs1801673 |
ensembl | rs1801673 |
geneview | rs1801673 |
scholar | rs1801673 |
rs1801673 | |
pharmgkb | rs1801673 |
gwascentral | rs1801673 |
openSNP | rs1801673 |
23andMe | rs1801673 |
SNPshot | rs1801673 |
SNPdbe | rs1801673 |
MSV3d | rs1801673 |
GWAS Ctlg | rs1801673 |
GMAF | 0.002755 |
Max Magnitude | 0 |
? | (A;A) (A;T) (T;T) | 28 |
---|---|---|
|
This SNP, a variant in the ATM gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer. [PMID 17341484]
For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.
For this particular SNP, the risk (minor) allele is (T).
[PMID 18701470] Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.
[PMID 19348699] Variants in the ATM gene and breast cancer susceptibility.
ClinVar | |
---|---|
Risk | rs1801673(T;T) |
Alt | rs1801673(T;T) |
Reference | Rs1801673(A;A) |
Significance | Probable-non-pathogenic |
Disease | not specified Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | ATM |
CLNDBN | not specified Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108175463A>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000120145.2, RCV000122859.5, RCV000128902.4, |