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rs121913014

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913014(C;T)
Make rs121913014(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position70884029
GenePCBD1
is asnp
is mentioned by
dbSNPrs121913014
ebirs121913014
HLIrs121913014
Exacrs121913014
Varsomers121913014
Maprs121913014
PheGenIrs121913014
hapmaprs121913014
1000 genomesrs121913014
hgdprs121913014
ensemblrs121913014
gopubmedrs121913014
geneviewrs121913014
scholarrs121913014
googlers121913014
pharmgkbrs121913014
gwascentralrs121913014
openSNPrs121913014
23andMers121913014
23andMe allrs121913014
SNP Nexus

SNPshotrs121913014
SNPdbers121913014
MSV3drs121913014
GWAS Ctlgrs121913014
Max Magnitude0
OMIM126090
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121913014(T;T)
Alt rs121913014(T;T)
Reference rs121913014(C;C)
Significance Pathogenic
Disease Hyperphenylalaninemia
Variation info
Gene PCBD1
CLNDBN Hyperphenylalaninemia, BH4-deficient, D
Reversed 1
HGVS NC_000010.10:g.72643786G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018288.28,