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rs185836803

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs185836803(C;T)
Make rs185836803(T;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position144052487
GeneOPLAH
is asnp
is mentioned by
dbSNPrs185836803
ebirs185836803
HLIrs185836803
Exacrs185836803
Varsomers185836803
Maprs185836803
PheGenIrs185836803
hapmaprs185836803
1000 genomesrs185836803
hgdprs185836803
ensemblrs185836803
gopubmedrs185836803
geneviewrs185836803
scholarrs185836803
googlers185836803
pharmgkbrs185836803
gwascentralrs185836803
openSNPrs185836803
23andMers185836803
23andMe allrs185836803
SNP Nexus

SNPshotrs185836803
SNPdbers185836803
MSV3drs185836803
GWAS Ctlgrs185836803
Max Magnitude0
ClinVar
Risk rs185836803(T;T)
Alt rs185836803(T;T)
Reference rs185836803(C;C)
Significance Pathogenic
Disease 5-Oxoprolinase deficiency
Variation info
Gene OPLAH
CLNDBN 5-Oxoprolinase deficiency
Reversed 0
HGVS NC_000008.10:g.145107390C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032836.3,