rs397508870
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;A) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(A;A) | 0 | common in clinvar |
Make rs397508870(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43094128 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs397508870 |
dbSNP (classic) | rs397508870 |
ClinGen | rs397508870 |
ebi | rs397508870 |
HLI | rs397508870 |
Exac | rs397508870 |
Gnomad | rs397508870 |
Varsome | rs397508870 |
LitVar | rs397508870 |
Map | rs397508870 |
PheGenI | rs397508870 |
Biobank | rs397508870 |
1000 genomes | rs397508870 |
hgdp | rs397508870 |
ensembl | rs397508870 |
geneview | rs397508870 |
scholar | rs397508870 |
rs397508870 | |
pharmgkb | rs397508870 |
gwascentral | rs397508870 |
openSNP | rs397508870 |
23andMe | rs397508870 |
SNPshot | rs397508870 |
SNPdbe | rs397508870 |
MSV3d | rs397508870 |
GWAS Ctlg | rs397508870 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs397508870(-;-) |
Alt | rs397508870(-;-) |
Reference | Rs397508870(A;A) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41246145delT |
CLNSRC | ClinVar |
CLNACC | RCV000047465.2, RCV000256662.2, |