rs397508833
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;G) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs397508833(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43094449 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs397508833 |
dbSNP (classic) | rs397508833 |
ClinGen | rs397508833 |
ebi | rs397508833 |
HLI | rs397508833 |
Exac | rs397508833 |
Gnomad | rs397508833 |
Varsome | rs397508833 |
LitVar | rs397508833 |
Map | rs397508833 |
PheGenI | rs397508833 |
Biobank | rs397508833 |
1000 genomes | rs397508833 |
hgdp | rs397508833 |
ensembl | rs397508833 |
geneview | rs397508833 |
scholar | rs397508833 |
rs397508833 | |
pharmgkb | rs397508833 |
gwascentral | rs397508833 |
openSNP | rs397508833 |
23andMe | rs397508833 |
SNPshot | rs397508833 |
SNPdbe | rs397508833 |
MSV3d | rs397508833 |
GWAS Ctlg | rs397508833 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs397508833(G;G) rs397508833(T;T) |
Alt | rs397508833(G;G) rs397508833(T;T) |
Reference | Rs397508833(C;C) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41246466G>A; NC_000017.10:g.41246466G>C |
CLNSRC | ClinVar |
CLNACC | RCV000459861.1, RCV000047333.2, RCV000256553.2, |