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rs137853263

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853263(C;T)
Make rs137853263(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position129562396
GeneOCRL
is asnp
is mentioned by
dbSNPrs137853263
ebirs137853263
HLIrs137853263
Exacrs137853263
Varsomers137853263
Maprs137853263
PheGenIrs137853263
hapmaprs137853263
1000 genomesrs137853263
hgdprs137853263
ensemblrs137853263
gopubmedrs137853263
geneviewrs137853263
scholarrs137853263
googlers137853263
pharmgkbrs137853263
gwascentralrs137853263
openSNPrs137853263
23andMers137853263
23andMe allrs137853263
SNP Nexus

SNPshotrs137853263
SNPdbers137853263
MSV3drs137853263
GWAS Ctlgrs137853263
Max Magnitude0
OMIM300535
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137853263(T;T)
Alt rs137853263(T;T)
Reference rs137853263(C;C)
Significance Other
Disease Dent disease 2 Lowe syndrome
Variation info
Gene OCRL
CLNDBN Dent disease 2 Lowe syndrome
Reversed 0
HGVS NC_000023.10:g.128696373C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000011608.7, RCV000059607.1,


[PMID 17384968] OCRL1 mutations in patients with Dent disease phenotype in Japan.


[PMID 21031565] From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.

OMIM309000
Desc
Variant
Relatedalso