rs1799967
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1799967(A;A) |
Make rs1799967(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 43070958 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs1799967 |
dbSNP (classic) | rs1799967 |
ClinGen | rs1799967 |
ebi | rs1799967 |
HLI | rs1799967 |
Exac | rs1799967 |
Gnomad | rs1799967 |
Varsome | rs1799967 |
LitVar | rs1799967 |
Map | rs1799967 |
PheGenI | rs1799967 |
Biobank | rs1799967 |
1000 genomes | rs1799967 |
hgdp | rs1799967 |
ensembl | rs1799967 |
geneview | rs1799967 |
scholar | rs1799967 |
rs1799967 | |
pharmgkb | rs1799967 |
gwascentral | rs1799967 |
openSNP | rs1799967 |
23andMe | rs1799967 |
SNPshot | rs1799967 |
SNPdbe | rs1799967 |
MSV3d | rs1799967 |
GWAS Ctlg | rs1799967 |
GMAF | 0.009183 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs1799967(A;A) |
Alt | rs1799967(A;A) |
Reference | Rs1799967(G;G) |
Significance | Other |
Disease | not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not specified Hereditary cancer-predisposing syndrome Familial cancer of breast |
Variation | info |
Gene | BRCA1 |
CLNDBN | not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 not specified Hereditary cancer-predisposing syndrome Familial cancer of breast |
Reversed | 1 |
HGVS | NC_000017.10:g.41222975C>T |
CLNSRC | Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation UniProtKB (protein) |
CLNACC | RCV000034756.3, RCV000048709.8, RCV000112434.5, RCV000120261.4, RCV000128916.4, RCV000476093.1, |