rs397507206
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(C;C) | 0 | common in clinvar |
Make rs397507206(C;T) |
Make rs397507206(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43092568 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs397507206 |
dbSNP (classic) | rs397507206 |
ClinGen | rs397507206 |
ebi | rs397507206 |
HLI | rs397507206 |
Exac | rs397507206 |
Gnomad | rs397507206 |
Varsome | rs397507206 |
LitVar | rs397507206 |
Map | rs397507206 |
PheGenI | rs397507206 |
Biobank | rs397507206 |
1000 genomes | rs397507206 |
hgdp | rs397507206 |
ensembl | rs397507206 |
geneview | rs397507206 |
scholar | rs397507206 |
rs397507206 | |
pharmgkb | rs397507206 |
gwascentral | rs397507206 |
openSNP | rs397507206 |
23andMe | rs397507206 |
SNPshot | rs397507206 |
SNPdbe | rs397507206 |
MSV3d | rs397507206 |
GWAS Ctlg | rs397507206 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs397507206(A;A) rs397507206(T;T) |
Alt | rs397507206(A;A) rs397507206(T;T) |
Reference | Rs397507206(C;C) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer not specified Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 not specified Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.41244585G>A; NC_000017.10:g.41244585G>T |
CLNSRC | ClinVar |
CLNACC | RCV000031075.3, RCV000159879.4, RCV000048024.2, RCV000166800.1, RCV000225640.2, RCV000487157.1, |