rs397507180
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;TGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(TGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA;TGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA) | 0 | common in clinvar |
Make rs397507180(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43094316 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs397507180 |
dbSNP (classic) | rs397507180 |
ClinGen | rs397507180 |
ebi | rs397507180 |
HLI | rs397507180 |
Exac | rs397507180 |
Gnomad | rs397507180 |
Varsome | rs397507180 |
LitVar | rs397507180 |
Map | rs397507180 |
PheGenI | rs397507180 |
Biobank | rs397507180 |
1000 genomes | rs397507180 |
hgdp | rs397507180 |
ensembl | rs397507180 |
geneview | rs397507180 |
scholar | rs397507180 |
rs397507180 | |
pharmgkb | rs397507180 |
gwascentral | rs397507180 |
openSNP | rs397507180 |
23andMe | rs397507180 |
SNPshot | rs397507180 |
SNPdbe | rs397507180 |
MSV3d | rs397507180 |
GWAS Ctlg | rs397507180 |
Max Magnitude | 6 |
BRCA1, c.1175_1215del41 (p.Leu392Glnfs)
ClinVar | |
---|---|
Risk | rs397507180(-;-) |
Alt | rs397507180(-;-) |
Reference | Rs397507180(TGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA;TGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41246333_41246373del41 |
CLNSRC | ClinVar |
CLNACC | RCV000030975.3, |