rs587781632
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(T;T) | 0 | common in clinvar |
Make rs587781632(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 43106476 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs587781632 |
dbSNP (classic) | rs587781632 |
ClinGen | rs587781632 |
ebi | rs587781632 |
HLI | rs587781632 |
Exac | rs587781632 |
Gnomad | rs587781632 |
Varsome | rs587781632 |
LitVar | rs587781632 |
Map | rs587781632 |
PheGenI | rs587781632 |
Biobank | rs587781632 |
1000 genomes | rs587781632 |
hgdp | rs587781632 |
ensembl | rs587781632 |
geneview | rs587781632 |
scholar | rs587781632 |
rs587781632 | |
pharmgkb | rs587781632 |
gwascentral | rs587781632 |
openSNP | rs587781632 |
23andMe | rs587781632 |
SNPshot | rs587781632 |
SNPdbe | rs587781632 |
MSV3d | rs587781632 |
GWAS Ctlg | rs587781632 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs587781632(A;A) rs587781632(G;G) |
Alt | rs587781632(A;A) rs587781632(G;G) |
Reference | Rs587781632(T;T) |
Significance | Pathogenic |
Disease | Neoplasm of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA1 |
CLNDBN | Neoplasm of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.41258493A>C; NC_000017.10:g.41258493A>T |
CLNSRC | |
CLNACC | RCV000240686.1, RCV000258255.1, RCV000129739.2, RCV000241417.1, |