rs397507197
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(-;TT) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs397507197(TT;TT) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43093316 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs397507197 |
dbSNP (classic) | rs397507197 |
ClinGen | rs397507197 |
ebi | rs397507197 |
HLI | rs397507197 |
Exac | rs397507197 |
Gnomad | rs397507197 |
Varsome | rs397507197 |
LitVar | rs397507197 |
Map | rs397507197 |
PheGenI | rs397507197 |
Biobank | rs397507197 |
1000 genomes | rs397507197 |
hgdp | rs397507197 |
ensembl | rs397507197 |
geneview | rs397507197 |
scholar | rs397507197 |
rs397507197 | |
pharmgkb | rs397507197 |
gwascentral | rs397507197 |
openSNP | rs397507197 |
23andMe | rs397507197 |
SNPshot | rs397507197 |
SNPdbe | rs397507197 |
MSV3d | rs397507197 |
GWAS Ctlg | rs397507197 |
Max Magnitude | 6 |
rs397507197 has merged into rs80357574
ClinVar | |
---|---|
Risk | rs397507197(TT;TT) rs397507197(T;T) |
Alt | rs397507197(TT;TT) rs397507197(T;T) |
Reference | Rs397507197(-;-) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.41245334_41245335dupAA; NC_000017.10:g.41245334dupA |
CLNSRC | ClinVar |
CLNACC | RCV000031038.4, RCV000167068.2, RCV000166536.1, RCV000241499.2, RCV000479756.1, |