rs1801426
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
(A;G) | 1 | Benign or at worst a very minor risk factor |
(G;G) | 2 |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32398747 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs1801426 |
dbSNP (classic) | rs1801426 |
ClinGen | rs1801426 |
ebi | rs1801426 |
HLI | rs1801426 |
Exac | rs1801426 |
Gnomad | rs1801426 |
Varsome | rs1801426 |
LitVar | rs1801426 |
Map | rs1801426 |
PheGenI | rs1801426 |
Biobank | rs1801426 |
1000 genomes | rs1801426 |
hgdp | rs1801426 |
ensembl | rs1801426 |
geneview | rs1801426 |
scholar | rs1801426 |
rs1801426 | |
pharmgkb | rs1801426 |
gwascentral | rs1801426 |
openSNP | rs1801426 |
23andMe | rs1801426 |
SNPshot | rs1801426 |
SNPdbe | rs1801426 |
MSV3d | rs1801426 |
GWAS Ctlg | rs1801426 |
GMAF | 0.04362 |
Max Magnitude | 2 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
This SNP, a variant in the BRCA2 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 (G).
23andMe name: i5009256
ClinVar | |
---|---|
Risk | Rs1801426(G;G) |
Alt | Rs1801426(G;G) |
Reference | Rs1801426(A;A) |
Significance | Other |
Disease | not provided Breast-ovarian cancer not specified Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Fanconi anemia Neoplasm of breast Familial cancer of breast |
Variation | info |
Gene | BRCA2 |
CLNDBN | not provided Breast-ovarian cancer, familial 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Fanconi anemia Neoplasm of breast Familial cancer of breast |
Reversed | 0 |
HGVS | NC_000013.10:g.32972884A>G |
CLNSRC | HGMD |
CLNACC | RCV000034426.4, RCV000112853.5, RCV000120373.7, RCV000130982.4, RCV000267039.2, RCV000361728.1, RCV000414645.1, RCV000460200.1, |