rs143901408
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs143901408(A;G) |
Make rs143901408(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 52407235 |
Gene | BAP1 |
is a | snp |
is | mentioned by |
dbSNP | rs143901408 |
dbSNP (classic) | rs143901408 |
ClinGen | rs143901408 |
ebi | rs143901408 |
HLI | rs143901408 |
Exac | rs143901408 |
Gnomad | rs143901408 |
Varsome | rs143901408 |
LitVar | rs143901408 |
Map | rs143901408 |
PheGenI | rs143901408 |
Biobank | rs143901408 |
1000 genomes | rs143901408 |
hgdp | rs143901408 |
ensembl | rs143901408 |
geneview | rs143901408 |
scholar | rs143901408 |
rs143901408 | |
pharmgkb | rs143901408 |
gwascentral | rs143901408 |
openSNP | rs143901408 |
23andMe | rs143901408 |
SNPshot | rs143901408 |
SNPdbe | rs143901408 |
MSV3d | rs143901408 |
GWAS Ctlg | rs143901408 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs143901408(C;C) rs143901408(G;G) |
Alt | rs143901408(C;C) rs143901408(G;G) |
Reference | Rs143901408(A;A) |
Significance | Pathogenic |
Disease | Tumor susceptibility linked to germline BAP1 mutations |
Variation | info |
Gene | BAP1 |
CLNDBN | Tumor susceptibility linked to germline BAP1 mutations |
Reversed | 0 |
HGVS | NC_000003.11:g.52441251A>C; NC_000003.11:g.52441251A>G |
CLNSRC | |
CLNACC | RCV000463331.1, RCV000230465.2, |