rs397508017
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;A) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs397508017(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32379452 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs397508017 |
dbSNP (classic) | rs397508017 |
ClinGen | rs397508017 |
ebi | rs397508017 |
HLI | rs397508017 |
Exac | rs397508017 |
Gnomad | rs397508017 |
Varsome | rs397508017 |
LitVar | rs397508017 |
Map | rs397508017 |
PheGenI | rs397508017 |
Biobank | rs397508017 |
1000 genomes | rs397508017 |
hgdp | rs397508017 |
ensembl | rs397508017 |
geneview | rs397508017 |
scholar | rs397508017 |
rs397508017 | |
pharmgkb | rs397508017 |
gwascentral | rs397508017 |
openSNP | rs397508017 |
23andMe | rs397508017 |
SNPshot | rs397508017 |
SNPdbe | rs397508017 |
MSV3d | rs397508017 |
GWAS Ctlg | rs397508017 |
Max Magnitude | 6 |
aka c.8890dupA
ClinVar | |
---|---|
Risk | rs397508017(A;A) |
Alt | rs397508017(A;A) |
Reference | Rs397508017(-;-) |
Significance | Untested |
Disease | Familial cancer of breast |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast |
Reversed | 0 |
HGVS | NC_000013.10:g.32953589dupA |
CLNSRC | ClinVar |
CLNACC | RCV000045648.2, |