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rs137852866

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852866(G;G)
Make rs137852866(G;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position121846919
GeneHPD
is asnp
is mentioned by
dbSNPrs137852866
ebirs137852866
HLIrs137852866
Exacrs137852866
Varsomers137852866
Maprs137852866
PheGenIrs137852866
hapmaprs137852866
1000 genomesrs137852866
hgdprs137852866
ensemblrs137852866
gopubmedrs137852866
geneviewrs137852866
scholarrs137852866
googlers137852866
pharmgkbrs137852866
gwascentralrs137852866
openSNPrs137852866
23andMers137852866
23andMe allrs137852866
SNP Nexus

SNPshotrs137852866
SNPdbers137852866
MSV3drs137852866
GWAS Ctlgrs137852866
Max Magnitude0
OMIM609695
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852866(G;G)
Alt rs137852866(G;G)
Reference rs137852866(T;T)
Significance Pathogenic
Disease 4-Hydroxyphenylpyruvate dioxygenase deficiency
Variation info
Gene HPD
CLNDBN 4-Hydroxyphenylpyruvate dioxygenase deficiency
Reversed 1
HGVS NC_000012.11:g.122284825A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001640.3,