rs527236116
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GAGA;GAGA) | 0 | common in clinvar |
Make rs527236116(-;-) |
Make rs527236116(-;GAGA) |
Reference | GRCh38 38.1/142 |
Chromosome | 9 |
Position | 32541968 |
Gene | TOPORS |
is a | snp |
is | mentioned by |
dbSNP | rs527236116 |
dbSNP (classic) | rs527236116 |
ClinGen | rs527236116 |
ebi | rs527236116 |
HLI | rs527236116 |
Exac | rs527236116 |
Gnomad | rs527236116 |
Varsome | rs527236116 |
LitVar | rs527236116 |
Map | rs527236116 |
PheGenI | rs527236116 |
Biobank | rs527236116 |
1000 genomes | rs527236116 |
hgdp | rs527236116 |
ensembl | rs527236116 |
geneview | rs527236116 |
scholar | rs527236116 |
rs527236116 | |
pharmgkb | rs527236116 |
gwascentral | rs527236116 |
openSNP | rs527236116 |
23andMe | rs527236116 |
SNPshot | rs527236116 |
SNPdbe | rs527236116 |
MSV3d | rs527236116 |
GWAS Ctlg | rs527236116 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs527236116(-;-) |
Alt | rs527236116(-;-) |
Reference | Rs527236116(GAGA;GAGA) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa |
Variation | info |
Gene | TOPORS |
CLNDBN | Retinitis pigmentosa |
Reversed | 1 |
HGVS | NC_000009.11:g.32541966_32541969delTCTC |
CLNSRC | ClinVar |
CLNACC | RCV000132654.1, |