rs397507216
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;A) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(A;A) | 0 | common in clinvar |
Make rs397507216(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43092028 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs397507216 |
dbSNP (classic) | rs397507216 |
ClinGen | rs397507216 |
ebi | rs397507216 |
HLI | rs397507216 |
Exac | rs397507216 |
Gnomad | rs397507216 |
Varsome | rs397507216 |
LitVar | rs397507216 |
Map | rs397507216 |
PheGenI | rs397507216 |
Biobank | rs397507216 |
1000 genomes | rs397507216 |
hgdp | rs397507216 |
ensembl | rs397507216 |
geneview | rs397507216 |
scholar | rs397507216 |
rs397507216 | |
pharmgkb | rs397507216 |
gwascentral | rs397507216 |
openSNP | rs397507216 |
23andMe | rs397507216 |
SNPshot | rs397507216 |
SNPdbe | rs397507216 |
MSV3d | rs397507216 |
GWAS Ctlg | rs397507216 |
Max Magnitude | 6 |
BRCA1, c.3503delA (p.Asn1168Metfs)
ClinVar | |
---|---|
Risk | rs397507216(-;-) |
Alt | rs397507216(-;-) |
Reference | Rs397507216(A;A) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41244045delT |
CLNSRC | ClinVar |
CLNACC | RCV000031113.4, |