Rs104894172

From SNPedia
Jump to: navigation, search

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894172(G;T)
Make rs104894172(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position70884006
GenePCBD1
is asnp
is mentioned by
dbSNPrs104894172
PheGenIrs104894172
nextbiors104894172
hapmaprs104894172
1000 genomesrs104894172
hgdprs104894172
ensemblrs104894172
gopubmedrs104894172
geneviewrs104894172
scholarrs104894172
googlers104894172
pharmgkbrs104894172
gwascentralrs104894172
openSNPrs104894172
23andMers104894172
23andMe allrs104894172
SNP Nexus

SNPshotrs104894172
SNPdbers104894172
MSV3drs104894172
Max Magnitude0
OMIM126090
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894172(T;T)
Alt rs104894172(T;T)
Reference rs104894172(G;G)
Significance Pathogenic
Disease Hyperphenylalaninemia
Variation info
Gene PCBD1
CLNDBN Hyperphenylalaninemia, bh4-deficient, d
Reversed 1
HGVS NC_000010.10:g.72643763C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018286.22,