rs397508942
From SNPedia
Merged into | rs80357715 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;A) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs397508942(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43093373 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs397508942 |
dbSNP (classic) | rs397508942 |
ClinGen | rs397508942 |
ebi | rs397508942 |
HLI | rs397508942 |
Exac | rs397508942 |
Gnomad | rs397508942 |
Varsome | rs397508942 |
LitVar | rs397508942 |
Map | rs397508942 |
PheGenI | rs397508942 |
Biobank | rs397508942 |
1000 genomes | rs397508942 |
hgdp | rs397508942 |
ensembl | rs397508942 |
geneview | rs397508942 |
scholar | rs397508942 |
rs397508942 | |
pharmgkb | rs397508942 |
gwascentral | rs397508942 |
openSNP | rs397508942 |
23andMe | rs397508942 |
SNPshot | rs397508942 |
SNPdbe | rs397508942 |
MSV3d | rs397508942 |
GWAS Ctlg | rs397508942 |
Status | Merged into rs80357715 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs397508942(A;A) |
Alt | rs397508942(A;A) |
Reference | Rs397508942(;) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA1 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.41245391dupT |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000047735.3, RCV000111778.3, RCV000210761.1, |