Have questions? Visit https://www.reddit.com/r/SNPedia

rs794727137

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794727137(C;C)
Make rs794727137(C;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position129569302
GeneOCRL
is asnp
is mentioned by
dbSNPrs794727137
ebirs794727137
HLIrs794727137
Exacrs794727137
Varsomers794727137
Maprs794727137
PheGenIrs794727137
hapmaprs794727137
1000 genomesrs794727137
hgdprs794727137
ensemblrs794727137
gopubmedrs794727137
geneviewrs794727137
scholarrs794727137
googlers794727137
pharmgkbrs794727137
gwascentralrs794727137
openSNPrs794727137
23andMers794727137
23andMe allrs794727137
SNP Nexus

SNPshotrs794727137
SNPdbers794727137
MSV3drs794727137
GWAS Ctlgrs794727137
Max Magnitude0
ClinVar
Risk rs794727137(C;C)
Alt rs794727137(C;C)
Reference rs794727137(T;T)
Significance Probable-Pathogenic
Disease Lowe syndrome
Variation info
Gene OCRL
CLNDBN Lowe syndrome
Reversed 0
HGVS NC_000023.10:g.128703279T>C
CLNSRC
CLNACC RCV000174838.1,