rs397509047
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;G) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs397509047(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43092319 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs397509047 |
dbSNP (classic) | rs397509047 |
ClinGen | rs397509047 |
ebi | rs397509047 |
HLI | rs397509047 |
Exac | rs397509047 |
Gnomad | rs397509047 |
Varsome | rs397509047 |
LitVar | rs397509047 |
Map | rs397509047 |
PheGenI | rs397509047 |
Biobank | rs397509047 |
1000 genomes | rs397509047 |
hgdp | rs397509047 |
ensembl | rs397509047 |
geneview | rs397509047 |
scholar | rs397509047 |
rs397509047 | |
pharmgkb | rs397509047 |
gwascentral | rs397509047 |
openSNP | rs397509047 |
23andMe | rs397509047 |
SNPshot | rs397509047 |
SNPdbe | rs397509047 |
MSV3d | rs397509047 |
GWAS Ctlg | rs397509047 |
Max Magnitude | 6 |
aka c.788-1288dup
ClinVar | |
---|---|
Risk | rs397509047(G;G) |
Alt | rs397509047(G;G) |
Reference | Rs397509047(-;-) |
Significance | Untested |
Disease | Familial cancer of breast |
Variation | info |
Gene | BRCA1 |
CLNDBN | Familial cancer of breast |
Reversed | 1 |
HGVS | NC_000017.10:g.41244337dupC |
CLNSRC | ClinVar |
CLNACC | RCV000048100.2, |