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rs398123290

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs398123290(-;-)
Make rs398123290(-;AG)
ReferenceGRCh38 38.1/141
ChromosomeX
Position129561263
GeneOCRL
is asnp
is mentioned by
dbSNPrs398123290
ebirs398123290
HLIrs398123290
Exacrs398123290
Varsomers398123290
Maprs398123290
PheGenIrs398123290
hapmaprs398123290
1000 genomesrs398123290
hgdprs398123290
ensemblrs398123290
gopubmedrs398123290
geneviewrs398123290
scholarrs398123290
googlers398123290
pharmgkbrs398123290
gwascentralrs398123290
openSNPrs398123290
23andMers398123290
23andMe allrs398123290
SNP Nexus

SNPshotrs398123290
SNPdbers398123290
MSV3drs398123290
GWAS Ctlgrs398123290
Max Magnitude0
ClinVar
Risk rs398123290(;)
Alt rs398123290(;)
Reference rs398123290(AG;AG)
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.128695240_128695241delAG
CLNSRC HGMD
CLNACC RCV000078497.3, RCV000173668.1, RCV000173669.1,