rs397508046
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs397508046(-;ATTA) |
Make rs397508046(ATTA;ATTA) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32394756 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs397508046 |
dbSNP (classic) | rs397508046 |
ClinGen | rs397508046 |
ebi | rs397508046 |
HLI | rs397508046 |
Exac | rs397508046 |
Gnomad | rs397508046 |
Varsome | rs397508046 |
LitVar | rs397508046 |
Map | rs397508046 |
PheGenI | rs397508046 |
Biobank | rs397508046 |
1000 genomes | rs397508046 |
hgdp | rs397508046 |
ensembl | rs397508046 |
geneview | rs397508046 |
scholar | rs397508046 |
rs397508046 | |
pharmgkb | rs397508046 |
gwascentral | rs397508046 |
openSNP | rs397508046 |
23andMe | rs397508046 |
SNPshot | rs397508046 |
SNPdbe | rs397508046 |
MSV3d | rs397508046 |
GWAS Ctlg | rs397508046 |
Max Magnitude | 0 |
aka c.9324_9325insATTA; pathogenicity is not listed in ClinVar but it appears likely based on similar mutations that this may also be pathogenic for breast cancer
ClinVar | |
---|---|
Risk | rs397508046(ATTA;ATTA) |
Alt | rs397508046(ATTA;ATTA) |
Reference | Rs397508046(-;-) |
Significance | Untested |
Disease | Familial cancer of breast |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast |
Reversed | 0 |
HGVS | NC_000013.10:g.32968893_32968894insATTA |
CLNSRC | ClinVar |
CLNACC | RCV000045793.2, |