rs397507402
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;TAT) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(TAT;TAT) | 0 | common in clinvar |
Make rs397507402(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32370484 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs397507402 |
dbSNP (classic) | rs397507402 |
ClinGen | rs397507402 |
ebi | rs397507402 |
HLI | rs397507402 |
Exac | rs397507402 |
Gnomad | rs397507402 |
Varsome | rs397507402 |
LitVar | rs397507402 |
Map | rs397507402 |
PheGenI | rs397507402 |
Biobank | rs397507402 |
1000 genomes | rs397507402 |
hgdp | rs397507402 |
ensembl | rs397507402 |
geneview | rs397507402 |
scholar | rs397507402 |
rs397507402 | |
pharmgkb | rs397507402 |
gwascentral | rs397507402 |
openSNP | rs397507402 |
23andMe | rs397507402 |
SNPshot | rs397507402 |
SNPdbe | rs397507402 |
MSV3d | rs397507402 |
GWAS Ctlg | rs397507402 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs397507402(C;C) |
Alt | rs397507402(C;C) |
Reference | Rs397507402(TAT;TAT) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not provided |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.32944621_32944623delTATinsC |
CLNSRC | ClinVar |
CLNACC | RCV000031742.5, RCV000219789.1, RCV000459143.1, RCV000486073.1, |