Have questions? Visit https://www.reddit.com/r/SNPedia

rs104894278

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894278(A;G)
Make rs104894278(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position112228649
GenePTS
is asnp
is mentioned by
dbSNPrs104894278
ebirs104894278
HLIrs104894278
Exacrs104894278
Varsomers104894278
Maprs104894278
PheGenIrs104894278
hapmaprs104894278
1000 genomesrs104894278
hgdprs104894278
ensemblrs104894278
gopubmedrs104894278
geneviewrs104894278
scholarrs104894278
googlers104894278
pharmgkbrs104894278
gwascentralrs104894278
openSNPrs104894278
23andMers104894278
23andMe allrs104894278
SNP Nexus

SNPshotrs104894278
SNPdbers104894278
MSV3drs104894278
GWAS Ctlgrs104894278
Max Magnitude0
OMIM612719
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894278(G;G)
Alt rs104894278(G;G)
Reference rs104894278(A;A)
Significance Pathogenic
Disease Hyperphenylalaninemia
Variation info
Gene PTS
CLNDBN Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency
Reversed 0
HGVS NC_000011.9:g.112099372A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000511.2,