rs111033593
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs111033593(C;C) |
Make rs111033593(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 55724468 |
Gene | BLOC1S1-RDH5, RDH5 |
is a | snp |
is | mentioned by |
dbSNP | rs111033593 |
dbSNP (classic) | rs111033593 |
ClinGen | rs111033593 |
ebi | rs111033593 |
HLI | rs111033593 |
Exac | rs111033593 |
Gnomad | rs111033593 |
Varsome | rs111033593 |
LitVar | rs111033593 |
Map | rs111033593 |
PheGenI | rs111033593 |
Biobank | rs111033593 |
1000 genomes | rs111033593 |
hgdp | rs111033593 |
ensembl | rs111033593 |
geneview | rs111033593 |
scholar | rs111033593 |
rs111033593 | |
pharmgkb | rs111033593 |
gwascentral | rs111033593 |
openSNP | rs111033593 |
23andMe | rs111033593 |
SNPshot | rs111033593 |
SNPdbe | rs111033593 |
MSV3d | rs111033593 |
GWAS Ctlg | rs111033593 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033593(C;C) |
Alt | rs111033593(C;C) |
Reference | Rs111033593(G;G) |
Significance | Pathogenic |
Disease | Fundus albipunctatus |
Variation | info |
Gene | RDH5 BLOC1S1-RDH5 |
CLNDBN | Fundus albipunctatus, autosomal recessive |
Reversed | 0 |
HGVS | NC_000012.11:g.56118252G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008470.2, |