rs397508973
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;AAGTATCCAT) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(-;GTATCCAT) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs397508973(AAGTATCCAT;AAGTATCCAT) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43093033 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs397508973 |
dbSNP (classic) | rs397508973 |
ClinGen | rs397508973 |
ebi | rs397508973 |
HLI | rs397508973 |
Exac | rs397508973 |
Gnomad | rs397508973 |
Varsome | rs397508973 |
LitVar | rs397508973 |
Map | rs397508973 |
PheGenI | rs397508973 |
Biobank | rs397508973 |
1000 genomes | rs397508973 |
hgdp | rs397508973 |
ensembl | rs397508973 |
geneview | rs397508973 |
scholar | rs397508973 |
rs397508973 | |
pharmgkb | rs397508973 |
gwascentral | rs397508973 |
openSNP | rs397508973 |
23andMe | rs397508973 |
SNPshot | rs397508973 |
SNPdbe | rs397508973 |
MSV3d | rs397508973 |
GWAS Ctlg | rs397508973 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs397508973(AAGTATCCAT;AAGTATCCAT) rs397508973(GTATCCAT;GTATCCAT) |
Alt | rs397508973(AAGTATCCAT;AAGTATCCAT) rs397508973(GTATCCAT;GTATCCAT) |
Reference | Rs397508973(-;-) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Familial cancer of breast not provided |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 Familial cancer of breast not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.41245051_41245058dupATGGATAC; NC_000017.10:g.41245051_41245060dupATGGATACTT |
CLNSRC | ClinVar |
CLNACC | RCV000257678.2, RCV000047861.2, RCV000256693.2, RCV000484003.1, |