rs431825410
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;TAACT) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(-;TTAAC) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(TAACT;TAACT) | 0 | common in clinvar |
(TTAAC;TTAAC) | 0 | common in clinvar |
Make rs431825410(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43067652 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs431825410 |
dbSNP (classic) | rs431825410 |
ClinGen | rs431825410 |
ebi | rs431825410 |
HLI | rs431825410 |
Exac | rs431825410 |
Gnomad | rs431825410 |
Varsome | rs431825410 |
LitVar | rs431825410 |
Map | rs431825410 |
PheGenI | rs431825410 |
Biobank | rs431825410 |
1000 genomes | rs431825410 |
hgdp | rs431825410 |
ensembl | rs431825410 |
geneview | rs431825410 |
scholar | rs431825410 |
rs431825410 | |
pharmgkb | rs431825410 |
gwascentral | rs431825410 |
openSNP | rs431825410 |
23andMe | rs431825410 |
SNPshot | rs431825410 |
SNPdbe | rs431825410 |
MSV3d | rs431825410 |
GWAS Ctlg | rs431825410 |
Merged from | Rs886038039 |
Max Magnitude | 6 |
BRCA1, c.5026_5030delTTAAC (p.Leu1676Terfs)
Note: ClinVar entry may not be current.
ClinVar | |
---|---|
Risk | Rs431825410(TAACT;TAACT) rs431825410(-;-) |
Alt | Rs431825410(TAACT;TAACT) rs431825410(-;-) |
Reference | Rs431825410(TTAAC;TTAAC) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41219668_41219672delAGTTA |
CLNSRC | ClinVar |
CLNACC | RCV000241367.2, |