rs80358150
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(C;G) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(G;G) | 0 | Normal |
(G;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs80358150(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43057051 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80358150 |
dbSNP (classic) | rs80358150 |
ClinGen | rs80358150 |
ebi | rs80358150 |
HLI | rs80358150 |
Exac | rs80358150 |
Gnomad | rs80358150 |
Varsome | rs80358150 |
LitVar | rs80358150 |
Map | rs80358150 |
PheGenI | rs80358150 |
Biobank | rs80358150 |
1000 genomes | rs80358150 |
hgdp | rs80358150 |
ensembl | rs80358150 |
geneview | rs80358150 |
scholar | rs80358150 |
rs80358150 | |
pharmgkb | rs80358150 |
gwascentral | rs80358150 |
openSNP | rs80358150 |
23andMe | rs80358150 |
SNPshot | rs80358150 |
SNPdbe | rs80358150 |
MSV3d | rs80358150 |
GWAS Ctlg | rs80358150 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs80358150(A;A) rs80358150(C;C) |
Alt | rs80358150(A;A) rs80358150(C;C) |
Reference | Rs80358150(G;G) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA1 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.41209068C>G; NC_000017.10:g.41209068C>T |
CLNSRC | Breast Cancer Information Core (BRCA1) Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation |
CLNACC | RCV000048897.2, RCV000031235.7, RCV000074601.6, RCV000131865.4, RCV000235135.2, |