rs142074233
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(G;G) | 0 | common in clinvar |
Make rs142074233(C;C) |
Make rs142074233(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43093931 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs142074233 |
dbSNP (classic) | rs142074233 |
ClinGen | rs142074233 |
ebi | rs142074233 |
HLI | rs142074233 |
Exac | rs142074233 |
Gnomad | rs142074233 |
Varsome | rs142074233 |
LitVar | rs142074233 |
Map | rs142074233 |
PheGenI | rs142074233 |
Biobank | rs142074233 |
1000 genomes | rs142074233 |
hgdp | rs142074233 |
ensembl | rs142074233 |
geneview | rs142074233 |
scholar | rs142074233 |
rs142074233 | |
pharmgkb | rs142074233 |
gwascentral | rs142074233 |
openSNP | rs142074233 |
23andMe | rs142074233 |
SNPshot | rs142074233 |
SNPdbe | rs142074233 |
MSV3d | rs142074233 |
GWAS Ctlg | rs142074233 |
Max Magnitude | 6 |
c.1600C>T (p.Gln534Ter)
ClinVar | |
---|---|
Risk | rs142074233(A;A) rs142074233(C;C) |
Alt | rs142074233(A;A) rs142074233(C;C) |
Reference | Rs142074233(G;G) |
Significance | Pathogenic |
Disease | Familial cancer of breast not provided Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Familial cancer of breast not provided Breast-ovarian cancer, familial 1 |
Reversed | 0 |
HGVS | NC_000017.10:g.41245948G>A |
CLNSRC | ClinVar |
CLNACC | RCV000047535.2, RCV000236467.1, RCV000238846.2, |