rs869312757
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6 | BAP1 Tumor Predisposition Syndrome |
Make rs869312757(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 3 |
Position | 52405163 |
Gene | BAP1 |
is a | snp |
is | mentioned by |
dbSNP | rs869312757 |
dbSNP (classic) | rs869312757 |
ClinGen | rs869312757 |
ebi | rs869312757 |
HLI | rs869312757 |
Exac | rs869312757 |
Gnomad | rs869312757 |
Varsome | rs869312757 |
LitVar | rs869312757 |
Map | rs869312757 |
PheGenI | rs869312757 |
Biobank | rs869312757 |
1000 genomes | rs869312757 |
hgdp | rs869312757 |
ensembl | rs869312757 |
geneview | rs869312757 |
scholar | rs869312757 |
rs869312757 | |
pharmgkb | rs869312757 |
gwascentral | rs869312757 |
openSNP | rs869312757 |
23andMe | rs869312757 |
SNPshot | rs869312757 |
SNPdbe | rs869312757 |
MSV3d | rs869312757 |
GWAS Ctlg | rs869312757 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs869312757(T;T) |
Alt | rs869312757(T;T) |
Reference | Rs869312757(C;C) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BAP1 |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000003.11:g.52439179G>A |
CLNSRC | |
CLNACC | RCV000210121.1, |