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rs794727333

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794727333(C;T)
Make rs794727333(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position129588221
GeneOCRL
is asnp
is mentioned by
dbSNPrs794727333
ebirs794727333
HLIrs794727333
Exacrs794727333
Varsomers794727333
Maprs794727333
PheGenIrs794727333
hapmaprs794727333
1000 genomesrs794727333
hgdprs794727333
ensemblrs794727333
gopubmedrs794727333
geneviewrs794727333
scholarrs794727333
googlers794727333
pharmgkbrs794727333
gwascentralrs794727333
openSNPrs794727333
23andMers794727333
23andMe allrs794727333
SNP Nexus

SNPshotrs794727333
SNPdbers794727333
MSV3drs794727333
GWAS Ctlgrs794727333
Max Magnitude0
ClinVar
Risk rs794727333(T;T)
Alt rs794727333(T;T)
Reference rs794727333(C;C)
Significance Pathogenic
Disease Dent disease 2 Lowe syndrome
Variation info
Gene OCRL
CLNDBN Dent disease 2 Lowe syndrome
Reversed 0
HGVS NC_000023.10:g.128722198C>T
CLNSRC
CLNACC RCV000176152.1, RCV000176153.1,