rs397509253
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs397509253(A;T) |
Make rs397509253(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43051119 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs397509253 |
dbSNP (classic) | rs397509253 |
ClinGen | rs397509253 |
ebi | rs397509253 |
HLI | rs397509253 |
Exac | rs397509253 |
Gnomad | rs397509253 |
Varsome | rs397509253 |
LitVar | rs397509253 |
Map | rs397509253 |
PheGenI | rs397509253 |
Biobank | rs397509253 |
1000 genomes | rs397509253 |
hgdp | rs397509253 |
ensembl | rs397509253 |
geneview | rs397509253 |
scholar | rs397509253 |
rs397509253 | |
pharmgkb | rs397509253 |
gwascentral | rs397509253 |
openSNP | rs397509253 |
23andMe | rs397509253 |
SNPshot | rs397509253 |
SNPdbe | rs397509253 |
MSV3d | rs397509253 |
GWAS Ctlg | rs397509253 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397509253(G;G) rs397509253(T;T) |
Alt | rs397509253(G;G) rs397509253(T;T) |
Reference | Rs397509253(A;A) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41203136T>A; NC_000017.10:g.41203136T>C |
CLNSRC | ClinVar |
CLNACC | RCV000048906.2, RCV000258354.1, |