rs397507710
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;T) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(T;T) | 0 | common in clinvar |
Make rs397507710(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32338506 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs397507710 |
dbSNP (classic) | rs397507710 |
ClinGen | rs397507710 |
ebi | rs397507710 |
HLI | rs397507710 |
Exac | rs397507710 |
Gnomad | rs397507710 |
Varsome | rs397507710 |
LitVar | rs397507710 |
Map | rs397507710 |
PheGenI | rs397507710 |
Biobank | rs397507710 |
1000 genomes | rs397507710 |
hgdp | rs397507710 |
ensembl | rs397507710 |
geneview | rs397507710 |
scholar | rs397507710 |
rs397507710 | |
pharmgkb | rs397507710 |
gwascentral | rs397507710 |
openSNP | rs397507710 |
23andMe | rs397507710 |
SNPshot | rs397507710 |
SNPdbe | rs397507710 |
MSV3d | rs397507710 |
GWAS Ctlg | rs397507710 |
Max Magnitude | 6 |
aka c.4151delT (p.Leu1384fs)
ClinVar | |
---|---|
Risk | rs397507710(-;-) |
Alt | rs397507710(-;-) |
Reference | Rs397507710(T;T) |
Significance | Pathogenic |
Disease | Familial cancer of breast Neoplasm of breast |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast Neoplasm of breast |
Reversed | 0 |
HGVS | NC_000013.10:g.32912643delT |
CLNSRC | ClinVar |
CLNACC | RCV000044361.2, RCV000240750.1, |