rs397507724
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;TGAT) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs397507724(TGAT;TGAT) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32338894 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs397507724 |
dbSNP (classic) | rs397507724 |
ClinGen | rs397507724 |
ebi | rs397507724 |
HLI | rs397507724 |
Exac | rs397507724 |
Gnomad | rs397507724 |
Varsome | rs397507724 |
LitVar | rs397507724 |
Map | rs397507724 |
PheGenI | rs397507724 |
Biobank | rs397507724 |
1000 genomes | rs397507724 |
hgdp | rs397507724 |
ensembl | rs397507724 |
geneview | rs397507724 |
scholar | rs397507724 |
rs397507724 | |
pharmgkb | rs397507724 |
gwascentral | rs397507724 |
openSNP | rs397507724 |
23andMe | rs397507724 |
SNPshot | rs397507724 |
SNPdbe | rs397507724 |
MSV3d | rs397507724 |
GWAS Ctlg | rs397507724 |
Max Magnitude | 6 |
aka c.4536_4539dupTGAT (p.Glu1514Terfs)
23andMe name: i5010509
ClinVar | |
---|---|
Risk | rs397507724(TGAT;TGAT) |
Alt | rs397507724(TGAT;TGAT) |
Reference | Rs397507724(;) |
Significance | Untested |
Disease | Familial cancer of breast |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast |
Reversed | 0 |
HGVS | NC_000013.10:g.32913028_32913031dupTGAT |
CLNSRC | ClinVar |
CLNACC | RCV000044431.2, |