rs397508946
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;AAGAA) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(AAGAA;AAGAA) | 0 | common in clinvar |
Make rs397508946(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43093335 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs397508946 |
dbSNP (classic) | rs397508946 |
ClinGen | rs397508946 |
ebi | rs397508946 |
HLI | rs397508946 |
Exac | rs397508946 |
Gnomad | rs397508946 |
Varsome | rs397508946 |
LitVar | rs397508946 |
Map | rs397508946 |
PheGenI | rs397508946 |
Biobank | rs397508946 |
1000 genomes | rs397508946 |
hgdp | rs397508946 |
ensembl | rs397508946 |
geneview | rs397508946 |
scholar | rs397508946 |
rs397508946 | |
pharmgkb | rs397508946 |
gwascentral | rs397508946 |
openSNP | rs397508946 |
23andMe | rs397508946 |
SNPshot | rs397508946 |
SNPdbe | rs397508946 |
MSV3d | rs397508946 |
GWAS Ctlg | rs397508946 |
Max Magnitude | 6 |
aka c.787+1405_787+1409del
ClinVar | |
---|---|
Risk | rs397508946(-;-) |
Alt | rs397508946(-;-) |
Reference | Rs397508946(AAGAA;AAGAA) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA1 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.41245352_41245356delTTCTT |
CLNSRC | ClinVar |
CLNACC | RCV000047749.2, RCV000211020.2, RCV000213548.1, |