rs606231404
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;ACTCC) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(ACTCC;ACTCC) | 0 | common in clinvar |
Make rs606231404(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 32340999 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs606231404 |
dbSNP (classic) | rs606231404 |
ClinGen | rs606231404 |
ebi | rs606231404 |
HLI | rs606231404 |
Exac | rs606231404 |
Gnomad | rs606231404 |
Varsome | rs606231404 |
LitVar | rs606231404 |
Map | rs606231404 |
PheGenI | rs606231404 |
Biobank | rs606231404 |
1000 genomes | rs606231404 |
hgdp | rs606231404 |
ensembl | rs606231404 |
geneview | rs606231404 |
scholar | rs606231404 |
rs606231404 | |
pharmgkb | rs606231404 |
gwascentral | rs606231404 |
openSNP | rs606231404 |
23andMe | rs606231404 |
SNPshot | rs606231404 |
SNPdbe | rs606231404 |
MSV3d | rs606231404 |
GWAS Ctlg | rs606231404 |
Merged from | Rs886038152 |
Max Magnitude | 6 |
aka c.6645_6649delACTCC
ClinVar | |
---|---|
Risk | rs606231404(-;-) rs606231404(CTCCA;CTCCA) |
Alt | rs606231404(-;-) rs606231404(CTCCA;CTCCA) |
Reference | Rs606231404(ACTCC;ACTCC) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32915137_32915141delCTCCA |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000241493.2, |