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rs387906484

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906484(C;T)
Make rs387906484(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position129589905
GeneOCRL
is asnp
is mentioned by
dbSNPrs387906484
ebirs387906484
HLIrs387906484
Exacrs387906484
Varsomers387906484
Maprs387906484
PheGenIrs387906484
hapmaprs387906484
1000 genomesrs387906484
hgdprs387906484
ensemblrs387906484
gopubmedrs387906484
geneviewrs387906484
scholarrs387906484
googlers387906484
pharmgkbrs387906484
gwascentralrs387906484
openSNPrs387906484
23andMers387906484
23andMe allrs387906484
SNP Nexus

SNPshotrs387906484
SNPdbers387906484
MSV3drs387906484
GWAS Ctlgrs387906484
Max Magnitude0
ClinVar
Risk rs387906484(T;T)
Alt rs387906484(T;T)
Reference rs387906484(C;C)
Significance Pathogenic
Disease Lowe syndrome
Variation info
Gene OCRL
CLNDBN Lowe syndrome
Reversed 0
HGVS NC_000023.10:g.128723882C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011604.6,