rs397507248
From SNPedia
Merged into | rs80357886 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs397507248(-;G) |
Make rs397507248(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43051105 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs397507248 |
dbSNP (classic) | rs397507248 |
ClinGen | rs397507248 |
ebi | rs397507248 |
HLI | rs397507248 |
Exac | rs397507248 |
Gnomad | rs397507248 |
Varsome | rs397507248 |
LitVar | rs397507248 |
Map | rs397507248 |
PheGenI | rs397507248 |
Biobank | rs397507248 |
1000 genomes | rs397507248 |
hgdp | rs397507248 |
ensembl | rs397507248 |
geneview | rs397507248 |
scholar | rs397507248 |
rs397507248 | |
pharmgkb | rs397507248 |
gwascentral | rs397507248 |
openSNP | rs397507248 |
23andMe | rs397507248 |
SNPshot | rs397507248 |
SNPdbe | rs397507248 |
MSV3d | rs397507248 |
GWAS Ctlg | rs397507248 |
Status | Merged into rs80357886 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397507248(G;G) |
Alt | rs397507248(G;G) |
Reference | Rs397507248(;) |
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.41203123dupC |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000048912.2, RCV000112602.3, |