rs202126574
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs202126574(C;T) |
Make rs202126574(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 67726084 |
Gene | GPHN, RDH12 |
is a | snp |
is | mentioned by |
dbSNP | rs202126574 |
dbSNP (classic) | rs202126574 |
ClinGen | rs202126574 |
ebi | rs202126574 |
HLI | rs202126574 |
Exac | rs202126574 |
Gnomad | rs202126574 |
Varsome | rs202126574 |
LitVar | rs202126574 |
Map | rs202126574 |
PheGenI | rs202126574 |
Biobank | rs202126574 |
1000 genomes | rs202126574 |
hgdp | rs202126574 |
ensembl | rs202126574 |
geneview | rs202126574 |
scholar | rs202126574 |
rs202126574 | |
pharmgkb | rs202126574 |
gwascentral | rs202126574 |
openSNP | rs202126574 |
23andMe | rs202126574 |
SNPshot | rs202126574 |
SNPdbe | rs202126574 |
MSV3d | rs202126574 |
GWAS Ctlg | rs202126574 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs202126574(T;T) |
Alt | rs202126574(T;T) |
Reference | Rs202126574(C;C) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 53 Retinitis pigmentosa |
Variation | info |
Gene | RDH12 |
CLNDBN | Retinitis pigmentosa 53 Retinitis pigmentosa |
Reversed | 0 |
HGVS | NC_000014.8:g.68192801C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002142.3, RCV000132691.1, |