rs876659196
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AGT;AGT) | 0 | common in clinvar |
(AGT;C) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs876659196(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 43093761 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs876659196 |
dbSNP (classic) | rs876659196 |
ClinGen | rs876659196 |
ebi | rs876659196 |
HLI | rs876659196 |
Exac | rs876659196 |
Gnomad | rs876659196 |
Varsome | rs876659196 |
LitVar | rs876659196 |
Map | rs876659196 |
PheGenI | rs876659196 |
Biobank | rs876659196 |
1000 genomes | rs876659196 |
hgdp | rs876659196 |
ensembl | rs876659196 |
geneview | rs876659196 |
scholar | rs876659196 |
rs876659196 | |
pharmgkb | rs876659196 |
gwascentral | rs876659196 |
openSNP | rs876659196 |
23andMe | rs876659196 |
SNPshot | rs876659196 |
SNPdbe | rs876659196 |
MSV3d | rs876659196 |
GWAS Ctlg | rs876659196 |
Max Magnitude | 6 |
aka c.787+981_787+983delinsC
ClinVar | |
---|---|
Risk | rs876659196(C;C) |
Alt | rs876659196(C;C) |
Reference | Rs876659196(AGT;AGT) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA1 |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.41245778_41245780delACTinsG |
CLNSRC | |
CLNACC | RCV000219321.1, |