rs80358023
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs80358023(C;C) |
Make rs80358023(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43070925 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80358023 |
dbSNP (classic) | rs80358023 |
ClinGen | rs80358023 |
ebi | rs80358023 |
HLI | rs80358023 |
Exac | rs80358023 |
Gnomad | rs80358023 |
Varsome | rs80358023 |
LitVar | rs80358023 |
Map | rs80358023 |
PheGenI | rs80358023 |
Biobank | rs80358023 |
1000 genomes | rs80358023 |
hgdp | rs80358023 |
ensembl | rs80358023 |
geneview | rs80358023 |
scholar | rs80358023 |
rs80358023 | |
pharmgkb | rs80358023 |
gwascentral | rs80358023 |
openSNP | rs80358023 |
23andMe | rs80358023 |
SNPshot | rs80358023 |
SNPdbe | rs80358023 |
MSV3d | rs80358023 |
GWAS Ctlg | rs80358023 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80358023(C;C) |
Alt | rs80358023(C;C) |
Reference | Rs80358023(G;G) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA1 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.41222942C>G |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000048721.5, RCV000112443.2, RCV000162881.2, RCV000236214.2, |