rs398123298
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs398123298(-;-) |
Make rs398123298(-;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 660539 |
Gene | PDE6B |
is a | snp |
is | mentioned by |
dbSNP | rs398123298 |
dbSNP (classic) | rs398123298 |
ClinGen | rs398123298 |
ebi | rs398123298 |
HLI | rs398123298 |
Exac | rs398123298 |
Gnomad | rs398123298 |
Varsome | rs398123298 |
LitVar | rs398123298 |
Map | rs398123298 |
PheGenI | rs398123298 |
Biobank | rs398123298 |
1000 genomes | rs398123298 |
hgdp | rs398123298 |
ensembl | rs398123298 |
geneview | rs398123298 |
scholar | rs398123298 |
rs398123298 | |
pharmgkb | rs398123298 |
gwascentral | rs398123298 |
openSNP | rs398123298 |
23andMe | rs398123298 |
SNPshot | rs398123298 |
SNPdbe | rs398123298 |
MSV3d | rs398123298 |
GWAS Ctlg | rs398123298 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123298(-;-) |
Alt | rs398123298(-;-) |
Reference | Rs398123298(C;C) |
Significance | Pathogenic |
Disease | not provided Retinitis pigmentosa 40 |
Variation | info |
Gene | PDE6B |
CLNDBN | not provided Retinitis pigmentosa 40 |
Reversed | 0 |
HGVS | NC_000004.11:g.654328delC |
CLNSRC | ClinVar |
CLNACC | RCV000078553.3, RCV000174237.1, |