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rs137853260

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853260(A;A)
Make rs137853260(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position129569296
GeneOCRL
is asnp
is mentioned by
dbSNPrs137853260
ebirs137853260
HLIrs137853260
Exacrs137853260
Varsomers137853260
Maprs137853260
PheGenIrs137853260
hapmaprs137853260
1000 genomesrs137853260
hgdprs137853260
ensemblrs137853260
gopubmedrs137853260
geneviewrs137853260
scholarrs137853260
googlers137853260
pharmgkbrs137853260
gwascentralrs137853260
openSNPrs137853260
23andMers137853260
23andMe allrs137853260
SNP Nexus

SNPshotrs137853260
SNPdbers137853260
MSV3drs137853260
GWAS Ctlgrs137853260
Max Magnitude0
OMIM300535
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137853260(A;A)
Alt rs137853260(A;A)
Reference rs137853260(G;G)
Significance Pathogenic
Disease Lowe syndrome
Variation info
Gene OCRL
CLNDBN Lowe syndrome
Reversed 0
HGVS NC_000023.10:g.128703273G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000011605.7,


[PMID 9682219] Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients.

OMIM309000
Desc
Variant
Relatedalso