rs397508969
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs397508969(-;A) |
Make rs397508969(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43093090 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs397508969 |
dbSNP (classic) | rs397508969 |
ClinGen | rs397508969 |
ebi | rs397508969 |
HLI | rs397508969 |
Exac | rs397508969 |
Gnomad | rs397508969 |
Varsome | rs397508969 |
LitVar | rs397508969 |
Map | rs397508969 |
PheGenI | rs397508969 |
Biobank | rs397508969 |
1000 genomes | rs397508969 |
hgdp | rs397508969 |
ensembl | rs397508969 |
geneview | rs397508969 |
scholar | rs397508969 |
rs397508969 | |
pharmgkb | rs397508969 |
gwascentral | rs397508969 |
openSNP | rs397508969 |
23andMe | rs397508969 |
SNPshot | rs397508969 |
SNPdbe | rs397508969 |
MSV3d | rs397508969 |
GWAS Ctlg | rs397508969 |
Max Magnitude | 0 |
aka c.2440_2441insA; pathogenicity not provided in ClinVar, but based on similar BRCA1 mutations, this could be potentially be a pathogenic breast cancer mutation
ClinVar | |
---|---|
Risk | rs397508969(A;A) |
Alt | rs397508969(A;A) |
Reference | Rs397508969(-;-) |
Significance | Untested |
Disease | Familial cancer of breast |
Variation | info |
Gene | BRCA1 |
CLNDBN | Familial cancer of breast |
Reversed | 1 |
HGVS | NC_000017.10:g.41245107_41245108insT |
CLNSRC | ClinVar |
CLNACC | RCV000047841.2, |