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rs137852868

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852868(C;G)
Make rs137852868(G;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position121839998
GeneHPD
is asnp
is mentioned by
dbSNPrs137852868
ebirs137852868
HLIrs137852868
Exacrs137852868
Varsomers137852868
Maprs137852868
PheGenIrs137852868
hapmaprs137852868
1000 genomesrs137852868
hgdprs137852868
ensemblrs137852868
gopubmedrs137852868
geneviewrs137852868
scholarrs137852868
googlers137852868
pharmgkbrs137852868
gwascentralrs137852868
openSNPrs137852868
23andMers137852868
23andMe allrs137852868
SNP Nexus

SNPshotrs137852868
SNPdbers137852868
MSV3drs137852868
GWAS Ctlgrs137852868
GMAF0.0009183
Max Magnitude0
OMIM609695
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137852868(G;G)
Alt rs137852868(G;G)
Reference rs137852868(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.122277904G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001642.4,