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rs794727182

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727182(A;A)
Make rs794727182(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position129575896
GeneOCRL
is asnp
is mentioned by
dbSNPrs794727182
dbSNP (classic)rs794727182
ClinGenrs794727182
ebirs794727182
HLIrs794727182
Exacrs794727182
Gnomadrs794727182
Varsomers794727182
LitVarrs794727182
Maprs794727182
PheGenIrs794727182
Biobankrs794727182
1000 genomesrs794727182
hgdprs794727182
ensemblrs794727182
geneviewrs794727182
scholarrs794727182
googlers794727182
pharmgkbrs794727182
gwascentralrs794727182
openSNPrs794727182
23andMers794727182
SNPshotrs794727182
SNPdbers794727182
MSV3drs794727182
GWAS Ctlgrs794727182
Max Magnitude0
ClinVar
Risk rs794727182(A;A)
Alt rs794727182(A;A)
Reference Rs794727182(G;G)
Significance Pathogenic
Disease Lowe syndrome
Variation info
Gene OCRL
CLNDBN Lowe syndrome
Reversed 0
HGVS NC_000023.10:g.128709873G>A
CLNSRC
CLNACC RCV000175133.1,