rs4986763
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs4986763(C;C) |
Make rs4986763(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 61683635 |
Gene | BRIP1 |
is a | snp |
is | mentioned by |
dbSNP | rs4986763 |
dbSNP (classic) | rs4986763 |
ClinGen | rs4986763 |
ebi | rs4986763 |
HLI | rs4986763 |
Exac | rs4986763 |
Gnomad | rs4986763 |
Varsome | rs4986763 |
LitVar | rs4986763 |
Map | rs4986763 |
PheGenI | rs4986763 |
Biobank | rs4986763 |
1000 genomes | rs4986763 |
hgdp | rs4986763 |
ensembl | rs4986763 |
geneview | rs4986763 |
scholar | rs4986763 |
rs4986763 | |
pharmgkb | rs4986763 |
gwascentral | rs4986763 |
openSNP | rs4986763 |
23andMe | rs4986763 |
SNPshot | rs4986763 |
SNPdbe | rs4986763 |
MSV3d | rs4986763 |
GWAS Ctlg | rs4986763 |
GMAF | 0.332 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 23473757] BRIP1 variations analysis reveals their relative importance as genetic susceptibility factor for cervical cancer
[PMID 19276285] Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.
[PMID 24301948] Further evidence for the contribution of the BRCA1-interacting protein-terminal helicase 1 (BRIP1) gene in breast cancer susceptibility
ClinVar | |
---|---|
Risk | rs4986763(C;C) |
Alt | rs4986763(C;C) |
Reference | Rs4986763(T;T) |
Significance | Probable-non-pathogenic |
Disease | Hereditary cancer-predisposing syndrome not specified Fanconi anemia Neoplasm of breast Fanconi anemia Neoplasm of ovary |
Variation | info |
Gene | BRIP1 |
CLNDBN | Hereditary cancer-predisposing syndrome not specified Fanconi anemia Neoplasm of breast Fanconi anemia, complementation group J Neoplasm of ovary |
Reversed | 1 |
HGVS | NC_000017.10:g.59760996A>G |
CLNSRC | |
CLNACC | RCV000162378.1, RCV000251677.1, RCV000283962.1, RCV000341269.1, RCV000410144.1, RCV000411217.1, |