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rs398123289

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123289(A;A)
Make rs398123289(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position129590145
GeneOCRL
is asnp
is mentioned by
dbSNPrs398123289
ebirs398123289
HLIrs398123289
Exacrs398123289
Varsomers398123289
Maprs398123289
PheGenIrs398123289
hapmaprs398123289
1000 genomesrs398123289
hgdprs398123289
ensemblrs398123289
gopubmedrs398123289
geneviewrs398123289
scholarrs398123289
googlers398123289
pharmgkbrs398123289
gwascentralrs398123289
openSNPrs398123289
23andMers398123289
23andMe allrs398123289
SNP Nexus

SNPshotrs398123289
SNPdbers398123289
MSV3drs398123289
GWAS Ctlgrs398123289
Max Magnitude0
ClinVar
Risk rs398123289(A;A)
Alt rs398123289(A;A)
Reference rs398123289(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.128724122G>A
CLNSRC HGMD
CLNACC RCV000078495.3, RCV000176451.1, RCV000176452.1,