rs786203494
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;A) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs786203494(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 13 |
Position | 32339269 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs786203494 |
dbSNP (classic) | rs786203494 |
ClinGen | rs786203494 |
ebi | rs786203494 |
HLI | rs786203494 |
Exac | rs786203494 |
Gnomad | rs786203494 |
Varsome | rs786203494 |
LitVar | rs786203494 |
Map | rs786203494 |
PheGenI | rs786203494 |
Biobank | rs786203494 |
1000 genomes | rs786203494 |
hgdp | rs786203494 |
ensembl | rs786203494 |
geneview | rs786203494 |
scholar | rs786203494 |
rs786203494 | |
pharmgkb | rs786203494 |
gwascentral | rs786203494 |
openSNP | rs786203494 |
23andMe | rs786203494 |
SNPshot | rs786203494 |
SNPdbe | rs786203494 |
MSV3d | rs786203494 |
GWAS Ctlg | rs786203494 |
Max Magnitude | 6 |
aka c.4914dupA (p.Val1639Serfs)
ClinVar | |
---|---|
Risk | rs786203494(A;A) |
Alt | rs786203494(A;A) |
Reference | Rs786203494(-;-) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32913406dupA |
CLNSRC | |
CLNACC | RCV000166820.1, RCV000240990.1, |