rs786202040
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;GACAG) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(GACAG;GACAG) | 0 | common in clinvar |
Make rs786202040(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 43057056 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs786202040 |
dbSNP (classic) | rs786202040 |
ClinGen | rs786202040 |
ebi | rs786202040 |
HLI | rs786202040 |
Exac | rs786202040 |
Gnomad | rs786202040 |
Varsome | rs786202040 |
LitVar | rs786202040 |
Map | rs786202040 |
PheGenI | rs786202040 |
Biobank | rs786202040 |
1000 genomes | rs786202040 |
hgdp | rs786202040 |
ensembl | rs786202040 |
geneview | rs786202040 |
scholar | rs786202040 |
rs786202040 | |
pharmgkb | rs786202040 |
gwascentral | rs786202040 |
openSNP | rs786202040 |
23andMe | rs786202040 |
SNPshot | rs786202040 |
SNPdbe | rs786202040 |
MSV3d | rs786202040 |
GWAS Ctlg | rs786202040 |
Max Magnitude | 6 |
aka c.5269_5273delGACAG
ClinVar | |
---|---|
Risk | rs786202040(-;-) |
Alt | rs786202040(-;-) |
Reference | Rs786202040(GACAG;GACAG) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41209073_41209077delCTGTC |
CLNSRC | |
CLNACC | RCV000164650.1, RCV000241228.1, |