rs483353093
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;CT) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(-;TC) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(TC;TC) | 0 | common in clinvar |
Make rs483353093(-;-) |
Make rs483353093(CT;CT) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 43104262 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs483353093 |
dbSNP (classic) | rs483353093 |
ClinGen | rs483353093 |
ebi | rs483353093 |
HLI | rs483353093 |
Exac | rs483353093 |
Gnomad | rs483353093 |
Varsome | rs483353093 |
LitVar | rs483353093 |
Map | rs483353093 |
PheGenI | rs483353093 |
Biobank | rs483353093 |
1000 genomes | rs483353093 |
hgdp | rs483353093 |
ensembl | rs483353093 |
geneview | rs483353093 |
scholar | rs483353093 |
rs483353093 | |
pharmgkb | rs483353093 |
gwascentral | rs483353093 |
openSNP | rs483353093 |
23andMe | rs483353093 |
SNPshot | rs483353093 |
SNPdbe | rs483353093 |
MSV3d | rs483353093 |
GWAS Ctlg | rs483353093 |
Max Magnitude | 6 |
BRCA1, c.302-2_302-1del
ClinVar | |
---|---|
Risk | rs483353093(-;-) |
Alt | rs483353093(-;-) |
Reference | Rs483353093(TC;TC) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 |
Reversed | 0 |
HGVS | NC_000017.10:g.41256279_41256280delCT |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000112249.1, |