rs397508943
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;C) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(C;C) | 0 | common in clinvar |
Make rs397508943(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43093365 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs397508943 |
dbSNP (classic) | rs397508943 |
ClinGen | rs397508943 |
ebi | rs397508943 |
HLI | rs397508943 |
Exac | rs397508943 |
Gnomad | rs397508943 |
Varsome | rs397508943 |
LitVar | rs397508943 |
Map | rs397508943 |
PheGenI | rs397508943 |
Biobank | rs397508943 |
1000 genomes | rs397508943 |
hgdp | rs397508943 |
ensembl | rs397508943 |
geneview | rs397508943 |
scholar | rs397508943 |
rs397508943 | |
pharmgkb | rs397508943 |
gwascentral | rs397508943 |
openSNP | rs397508943 |
23andMe | rs397508943 |
SNPshot | rs397508943 |
SNPdbe | rs397508943 |
MSV3d | rs397508943 |
GWAS Ctlg | rs397508943 |
Max Magnitude | 6 |
aka c.787+1379del
ClinVar | |
---|---|
Risk | rs397508943(-;-) |
Alt | rs397508943(-;-) |
Reference | Rs397508943(C;C) |
Significance | Untested |
Disease | Familial cancer of breast |
Variation | info |
Gene | BRCA1 |
CLNDBN | Familial cancer of breast |
Reversed | 1 |
HGVS | NC_000017.10:g.41245382delG |
CLNSRC | ClinVar |
CLNACC | RCV000047738.2, |