rs8176318
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs8176318(G;T) |
Make rs8176318(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43045257 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs8176318 |
dbSNP (classic) | rs8176318 |
ClinGen | rs8176318 |
ebi | rs8176318 |
HLI | rs8176318 |
Exac | rs8176318 |
Gnomad | rs8176318 |
Varsome | rs8176318 |
LitVar | rs8176318 |
Map | rs8176318 |
PheGenI | rs8176318 |
Biobank | rs8176318 |
1000 genomes | rs8176318 |
hgdp | rs8176318 |
ensembl | rs8176318 |
geneview | rs8176318 |
scholar | rs8176318 |
rs8176318 | |
pharmgkb | rs8176318 |
gwascentral | rs8176318 |
openSNP | rs8176318 |
23andMe | rs8176318 |
SNPshot | rs8176318 |
SNPdbe | rs8176318 |
MSV3d | rs8176318 |
GWAS Ctlg | rs8176318 |
GMAF | 0.2906 |
Max Magnitude | 0 |
? | (G;G) (G;T) (T;T) | 28 |
---|---|---|
|
[PMID 21191178] Rare BRCA1 haplotypes including 3'UTR SNPs associated with breast cancer risk
[PMID 17332845] Meta-analysis in genome-wide association datasets: strategies and application in Parkinson disease.
[PMID 21161372] Risk of contralateral breast cancer associated with common variants in BRCA1 and BRCA2: potential modifying effect of BRCA1/BRCA2 mutation carrier status.
[PMID 24915755] A germline mutation in the BRCA1 3'UTR predicts Stage IV breast cancer
[PMID 26630397] SNP Regulation of microRNA Expression and Subsequent Colon Cancer Risk.
ClinVar | |
---|---|
Risk | rs8176318(T;T) |
Alt | rs8176318(T;T) |
Reference | Rs8176318(G;G) |
Significance | Probable-non-pathogenic |
Disease | Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.41197274C>A |
CLNSRC | |
CLNACC | RCV000191177.1, RCV000372376.1, |