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rs398122906

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398122906(A;A)
Make rs398122906(A;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position144058129
GeneOPLAH
is asnp
is mentioned by
dbSNPrs398122906
ebirs398122906
HLIrs398122906
Exacrs398122906
Varsomers398122906
Maprs398122906
PheGenIrs398122906
hapmaprs398122906
1000 genomesrs398122906
hgdprs398122906
ensemblrs398122906
gopubmedrs398122906
geneviewrs398122906
scholarrs398122906
googlers398122906
pharmgkbrs398122906
gwascentralrs398122906
openSNPrs398122906
23andMers398122906
23andMe allrs398122906
SNP Nexus

SNPshotrs398122906
SNPdbers398122906
MSV3drs398122906
GWAS Ctlgrs398122906
Max Magnitude0
ClinVar
Risk rs398122906(A;A)
Alt rs398122906(A;A)
Reference rs398122906(C;C)
Significance Pathogenic
Disease 5-Oxoprolinase deficiency
Variation info
Gene MIR6846 OPLAH
CLNDBN 5-Oxoprolinase deficiency
Reversed 1
HGVS NC_000008.10:g.145113032G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032835.3,