rs397509143
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;AG) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs397509143(AG;AG) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43090962 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs397509143 |
dbSNP (classic) | rs397509143 |
ClinGen | rs397509143 |
ebi | rs397509143 |
HLI | rs397509143 |
Exac | rs397509143 |
Gnomad | rs397509143 |
Varsome | rs397509143 |
LitVar | rs397509143 |
Map | rs397509143 |
PheGenI | rs397509143 |
Biobank | rs397509143 |
1000 genomes | rs397509143 |
hgdp | rs397509143 |
ensembl | rs397509143 |
geneview | rs397509143 |
scholar | rs397509143 |
rs397509143 | |
pharmgkb | rs397509143 |
gwascentral | rs397509143 |
openSNP | rs397509143 |
23andMe | rs397509143 |
SNPshot | rs397509143 |
SNPdbe | rs397509143 |
MSV3d | rs397509143 |
GWAS Ctlg | rs397509143 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs397509143(AG;AG) |
Alt | rs397509143(AG;AG) |
Reference | Rs397509143(-;-) |
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.41242980_41242981dupCT |
CLNSRC | ClinVar |
CLNACC | RCV000048464.2, RCV000256633.2, |