rs397507608
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;G) | 6 | Likely miscall in Ancestry and possibly 23andMe data; otherwise, BRCA2 variant considered pathogenic for breast cancer |
(G;G) | 0 | common in clinvar |
Make rs397507608(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32333283 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs397507608 |
dbSNP (classic) | rs397507608 |
ClinGen | rs397507608 |
ebi | rs397507608 |
HLI | rs397507608 |
Exac | rs397507608 |
Gnomad | rs397507608 |
Varsome | rs397507608 |
LitVar | rs397507608 |
Map | rs397507608 |
PheGenI | rs397507608 |
Biobank | rs397507608 |
1000 genomes | rs397507608 |
hgdp | rs397507608 |
ensembl | rs397507608 |
geneview | rs397507608 |
scholar | rs397507608 |
rs397507608 | |
pharmgkb | rs397507608 |
gwascentral | rs397507608 |
openSNP | rs397507608 |
23andMe | rs397507608 |
SNPshot | rs397507608 |
SNPdbe | rs397507608 |
MSV3d | rs397507608 |
GWAS Ctlg | rs397507608 |
Max Magnitude | 6 |
aka c.1805delG (p.Gly602Glufs)
ClinVar | |
---|---|
Risk | rs397507608(-;-) |
Alt | rs397507608(-;-) |
Reference | Rs397507608(G;G) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32907420delG |
CLNSRC | ClinVar |
CLNACC | RCV000043894.2, RCV000257598.2, |