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rs137852865

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852865(A;G)
Make rs137852865(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position121849726
GeneHPD
is asnp
is mentioned by
dbSNPrs137852865
ebirs137852865
HLIrs137852865
Exacrs137852865
Varsomers137852865
Maprs137852865
PheGenIrs137852865
hapmaprs137852865
1000 genomesrs137852865
hgdprs137852865
ensemblrs137852865
gopubmedrs137852865
geneviewrs137852865
scholarrs137852865
googlers137852865
pharmgkbrs137852865
gwascentralrs137852865
openSNPrs137852865
23andMers137852865
23andMe allrs137852865
SNP Nexus

SNPshotrs137852865
SNPdbers137852865
MSV3drs137852865
GWAS Ctlgrs137852865
Max Magnitude0
OMIM609695
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852865(G;G)
Alt rs137852865(G;G)
Reference rs137852865(A;A)
Significance Pathogenic
Disease 4-Hydroxyphenylpyruvate dioxygenase deficiency
Variation info
Gene HPD
CLNDBN 4-Hydroxyphenylpyruvate dioxygenase deficiency
Reversed 1
HGVS NC_000012.11:g.122287632T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001639.3,