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rs137852867

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852867(C;G)
Make rs137852867(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position121847211
GeneHPD
is asnp
is mentioned by
dbSNPrs137852867
ebirs137852867
HLIrs137852867
Exacrs137852867
Varsomers137852867
Maprs137852867
PheGenIrs137852867
hapmaprs137852867
1000 genomesrs137852867
hgdprs137852867
ensemblrs137852867
gopubmedrs137852867
geneviewrs137852867
scholarrs137852867
googlers137852867
pharmgkbrs137852867
gwascentralrs137852867
openSNPrs137852867
23andMers137852867
23andMe allrs137852867
SNP Nexus

SNPshotrs137852867
SNPdbers137852867
MSV3drs137852867
GWAS Ctlgrs137852867
Max Magnitude0
OMIM609695
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852867(G;G)
Alt rs137852867(G;G)
Reference rs137852867(C;C)
Significance Pathogenic
Disease 4-Hydroxyphenylpyruvate dioxygenase deficiency
Variation info
Gene HPD
CLNDBN 4-Hydroxyphenylpyruvate dioxygenase deficiency
Reversed 1
HGVS NC_000012.11:g.122285117G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001641.5,