rs397507732
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;A) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs397507732(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32338948 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs397507732 |
dbSNP (classic) | rs397507732 |
ClinGen | rs397507732 |
ebi | rs397507732 |
HLI | rs397507732 |
Exac | rs397507732 |
Gnomad | rs397507732 |
Varsome | rs397507732 |
LitVar | rs397507732 |
Map | rs397507732 |
PheGenI | rs397507732 |
Biobank | rs397507732 |
1000 genomes | rs397507732 |
hgdp | rs397507732 |
ensembl | rs397507732 |
geneview | rs397507732 |
scholar | rs397507732 |
rs397507732 | |
pharmgkb | rs397507732 |
gwascentral | rs397507732 |
openSNP | rs397507732 |
23andMe | rs397507732 |
SNPshot | rs397507732 |
SNPdbe | rs397507732 |
MSV3d | rs397507732 |
GWAS Ctlg | rs397507732 |
Max Magnitude | 6 |
aka c.4593dupA (p.Val1532Serfs); this is equivalent to the c.4587_4588insA variant which is rs745456776. These "insA" variants are the same but (until merged in dbSNP perhaps) come about from whether the insertion is considered to occur at the beginning or end of a run of A's.
23andMe name: i5010511
ClinVar | |
---|---|
Risk | rs397507732(A;A) |
Alt | rs397507732(A;A) |
Reference | Rs397507732(-;-) |
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.32913085dupA |
CLNSRC | ClinVar |
CLNACC | RCV000044450.2, RCV000077731.4, |