if you're willing to be interviewed for a magazine interview related to SNPedia send email to info@snpedia.com subject:'Interview OK'

Rs104894177

From SNPedia
Jump to: navigation, search

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894177(C;C)
Make rs104894177(C;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position70884021
GenePCBD1
is asnp
is mentioned by
dbSNPrs104894177
PheGenIrs104894177
nextbiors104894177
hapmaprs104894177
1000 genomesrs104894177
hgdprs104894177
ensemblrs104894177
gopubmedrs104894177
geneviewrs104894177
scholarrs104894177
googlers104894177
pharmgkbrs104894177
gwascentralrs104894177
openSNPrs104894177
23andMers104894177
23andMe allrs104894177
SNP Nexus

SNPshotrs104894177
SNPdbers104894177
MSV3drs104894177
Max Magnitude0
OMIM126090
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894177(C;C)
Alt rs104894177(C;C)
Reference rs104894177(T;T)
Significance Pathogenic
Disease Hyperphenylalaninemia
Variation info
Gene PCBD1
CLNDBN Hyperphenylalaninemia, bh4-deficient, d
Reversed 1
HGVS NC_000010.10:g.72643778A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018287.26,