rs137853261
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs137853261(C;G) |
Make rs137853261(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 129569369 |
Gene | OCRL |
is a | snp |
is | mentioned by |
dbSNP | rs137853261 |
dbSNP (classic) | rs137853261 |
ClinGen | rs137853261 |
ebi | rs137853261 |
HLI | rs137853261 |
Exac | rs137853261 |
Gnomad | rs137853261 |
Varsome | rs137853261 |
LitVar | rs137853261 |
Map | rs137853261 |
PheGenI | rs137853261 |
Biobank | rs137853261 |
1000 genomes | rs137853261 |
hgdp | rs137853261 |
ensembl | rs137853261 |
geneview | rs137853261 |
scholar | rs137853261 |
rs137853261 | |
pharmgkb | rs137853261 |
gwascentral | rs137853261 |
openSNP | rs137853261 |
23andMe | rs137853261 |
SNPshot | rs137853261 |
SNPdbe | rs137853261 |
MSV3d | rs137853261 |
GWAS Ctlg | rs137853261 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137853261(G;G) |
Alt | rs137853261(G;G) |
Reference | Rs137853261(C;C) |
Significance | Pathogenic |
Disease | Lowe syndrome |
Variation | info |
Gene | OCRL |
CLNDBN | Lowe syndrome |
Reversed | 0 |
HGVS | NC_000023.10:g.128703346C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants) |
CLNACC | RCV000011606.10, |
[PMID 9632163] Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes.