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rs104894279

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894279(A;G)
Make rs104894279(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position112233464
GenePTS
is asnp
is mentioned by
dbSNPrs104894279
ebirs104894279
HLIrs104894279
Exacrs104894279
Varsomers104894279
Maprs104894279
PheGenIrs104894279
hapmaprs104894279
1000 genomesrs104894279
hgdprs104894279
ensemblrs104894279
gopubmedrs104894279
geneviewrs104894279
scholarrs104894279
googlers104894279
pharmgkbrs104894279
gwascentralrs104894279
openSNPrs104894279
23andMers104894279
23andMe allrs104894279
SNP Nexus

SNPshotrs104894279
SNPdbers104894279
MSV3drs104894279
GWAS Ctlgrs104894279
Max Magnitude0
OMIM612719
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894279(G;G)
Alt rs104894279(G;G)
Reference rs104894279(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.112104187A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000512.3,