rs397509307
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs397509307(-;C) |
Make rs397509307(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43094853 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs397509307 |
dbSNP (classic) | rs397509307 |
ClinGen | rs397509307 |
ebi | rs397509307 |
HLI | rs397509307 |
Exac | rs397509307 |
Gnomad | rs397509307 |
Varsome | rs397509307 |
LitVar | rs397509307 |
Map | rs397509307 |
PheGenI | rs397509307 |
Biobank | rs397509307 |
1000 genomes | rs397509307 |
hgdp | rs397509307 |
ensembl | rs397509307 |
geneview | rs397509307 |
scholar | rs397509307 |
rs397509307 | |
pharmgkb | rs397509307 |
gwascentral | rs397509307 |
openSNP | rs397509307 |
23andMe | rs397509307 |
SNPshot | rs397509307 |
SNPdbe | rs397509307 |
MSV3d | rs397509307 |
GWAS Ctlg | rs397509307 |
Max Magnitude | 0 |
aka c.677_678insC; pathogenicity of this BRCA1 gene mutation is not annotated in ClinVar
ClinVar | |
---|---|
Risk | rs397509307(C;C) |
Alt | rs397509307(C;C) |
Reference | Rs397509307(-;-) |
Significance | Untested |
Disease | Familial cancer of breast |
Variation | info |
Gene | BRCA1 |
CLNDBN | Familial cancer of breast |
Reversed | 1 |
HGVS | NC_000017.10:g.41246870_41246871insG |
CLNSRC | ClinVar |
CLNACC | RCV000049092.2, |