rs786203982
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;A) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(A;A) | 0 | common in clinvar |
Make rs786203982(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 43094054 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs786203982 |
dbSNP (classic) | rs786203982 |
ClinGen | rs786203982 |
ebi | rs786203982 |
HLI | rs786203982 |
Exac | rs786203982 |
Gnomad | rs786203982 |
Varsome | rs786203982 |
LitVar | rs786203982 |
Map | rs786203982 |
PheGenI | rs786203982 |
Biobank | rs786203982 |
1000 genomes | rs786203982 |
hgdp | rs786203982 |
ensembl | rs786203982 |
geneview | rs786203982 |
scholar | rs786203982 |
rs786203982 | |
pharmgkb | rs786203982 |
gwascentral | rs786203982 |
openSNP | rs786203982 |
23andMe | rs786203982 |
SNPshot | rs786203982 |
SNPdbe | rs786203982 |
MSV3d | rs786203982 |
GWAS Ctlg | rs786203982 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs786203982(-;-) |
Alt | rs786203982(-;-) |
Reference | Rs786203982(A;A) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41246071delT |
CLNSRC | |
CLNACC | RCV000167520.1, RCV000241237.1, |