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rs137853261

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853261(C;G)
Make rs137853261(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position129569369
GeneOCRL
is asnp
is mentioned by
dbSNPrs137853261
ebirs137853261
HLIrs137853261
Exacrs137853261
Varsomers137853261
Maprs137853261
PheGenIrs137853261
hapmaprs137853261
1000 genomesrs137853261
hgdprs137853261
ensemblrs137853261
gopubmedrs137853261
geneviewrs137853261
scholarrs137853261
googlers137853261
pharmgkbrs137853261
gwascentralrs137853261
openSNPrs137853261
23andMers137853261
23andMe allrs137853261
SNP Nexus

SNPshotrs137853261
SNPdbers137853261
MSV3drs137853261
GWAS Ctlgrs137853261
Max Magnitude0
OMIM300535
Desc
Variant0004
Relatedalso
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 (variants)
CLNACC RCV000011606.10,


[PMID 9632163] Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes.

OMIM309000
Desc
Variant
Relatedalso