rs431825384
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;AT) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(AT;AT) | 0 | common in clinvar |
Make rs431825384(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43094382 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs431825384 |
dbSNP (classic) | rs431825384 |
ClinGen | rs431825384 |
ebi | rs431825384 |
HLI | rs431825384 |
Exac | rs431825384 |
Gnomad | rs431825384 |
Varsome | rs431825384 |
LitVar | rs431825384 |
Map | rs431825384 |
PheGenI | rs431825384 |
Biobank | rs431825384 |
1000 genomes | rs431825384 |
hgdp | rs431825384 |
ensembl | rs431825384 |
geneview | rs431825384 |
scholar | rs431825384 |
rs431825384 | |
pharmgkb | rs431825384 |
gwascentral | rs431825384 |
openSNP | rs431825384 |
23andMe | rs431825384 |
SNPshot | rs431825384 |
SNPdbe | rs431825384 |
MSV3d | rs431825384 |
GWAS Ctlg | rs431825384 |
Max Magnitude | 6 |
BRCA1, c.1148_1149delAT (p.Asn383Argfs)
ClinVar | |
---|---|
Risk | rs431825384(-;-) |
Alt | rs431825384(-;-) |
Reference | Rs431825384(AT;AT) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41246399_41246400delAT |
CLNSRC | ClinVar |
CLNACC | RCV000083016.4, |