rs730882166
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs730882166(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 43067625 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs730882166 |
dbSNP (classic) | rs730882166 |
ClinGen | rs730882166 |
ebi | rs730882166 |
HLI | rs730882166 |
Exac | rs730882166 |
Gnomad | rs730882166 |
Varsome | rs730882166 |
LitVar | rs730882166 |
Map | rs730882166 |
PheGenI | rs730882166 |
Biobank | rs730882166 |
1000 genomes | rs730882166 |
hgdp | rs730882166 |
ensembl | rs730882166 |
geneview | rs730882166 |
scholar | rs730882166 |
rs730882166 | |
pharmgkb | rs730882166 |
gwascentral | rs730882166 |
openSNP | rs730882166 |
23andMe | rs730882166 |
SNPshot | rs730882166 |
SNPdbe | rs730882166 |
MSV3d | rs730882166 |
GWAS Ctlg | rs730882166 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs730882166(G;G) |
Alt | rs730882166(G;G) |
Reference | Rs730882166(A;A) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not specified |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome not specified |
Reversed | 1 |
HGVS | NC_000017.10:g.41219642T>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000162048.1, RCV000468314.1, RCV000483050.1, |