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rs398123288

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123288(-;-)
Make rs398123288(-;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position129589938
GeneOCRL
is asnp
is mentioned by
dbSNPrs398123288
ebirs398123288
HLIrs398123288
Exacrs398123288
Varsomers398123288
Maprs398123288
PheGenIrs398123288
hapmaprs398123288
1000 genomesrs398123288
hgdprs398123288
ensemblrs398123288
gopubmedrs398123288
geneviewrs398123288
scholarrs398123288
googlers398123288
pharmgkbrs398123288
gwascentralrs398123288
openSNPrs398123288
23andMers398123288
23andMe allrs398123288
SNP Nexus

SNPshotrs398123288
SNPdbers398123288
MSV3drs398123288
GWAS Ctlgrs398123288
Max Magnitude0
ClinVar
Risk rs398123288(;)
Alt rs398123288(;)
Reference rs398123288(G;G)
Significance Pathogenic
Disease not provided Dent disease 2 Lowe syndrome
Variation info
Gene OCRL
CLNDBN not provided Dent disease 2 Lowe syndrome
Reversed 0
HGVS NC_000023.10:g.128723915delG
CLNSRC ClinVar
CLNACC RCV000078494.3, RCV000176362.1, RCV000176363.1,