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rs121913015

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913015(C;T)
Make rs121913015(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position70883973
GenePCBD1
is asnp
is mentioned by
dbSNPrs121913015
ebirs121913015
HLIrs121913015
Exacrs121913015
Varsomers121913015
Maprs121913015
PheGenIrs121913015
hapmaprs121913015
1000 genomesrs121913015
hgdprs121913015
ensemblrs121913015
gopubmedrs121913015
geneviewrs121913015
scholarrs121913015
googlers121913015
pharmgkbrs121913015
gwascentralrs121913015
openSNPrs121913015
23andMers121913015
23andMe allrs121913015
SNP Nexus

SNPshotrs121913015
SNPdbers121913015
MSV3drs121913015
GWAS Ctlgrs121913015
Max Magnitude0
OMIM126090
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121913015(T;T)
Alt rs121913015(T;T)
Reference rs121913015(C;C)
Significance Pathogenic
Disease Hyperphenylalaninemia
Variation info
Gene PCBD1
CLNDBN Hyperphenylalaninemia, BH4-deficient, D
Reversed 1
HGVS NC_000010.10:g.72643730G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018290.24,