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rs104894274

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894274(C;T)
Make rs104894274(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position112226489
GenePTS
is asnp
is mentioned by
dbSNPrs104894274
ebirs104894274
HLIrs104894274
Exacrs104894274
Varsomers104894274
Maprs104894274
PheGenIrs104894274
hapmaprs104894274
1000 genomesrs104894274
hgdprs104894274
ensemblrs104894274
gopubmedrs104894274
geneviewrs104894274
scholarrs104894274
googlers104894274
pharmgkbrs104894274
gwascentralrs104894274
openSNPrs104894274
23andMers104894274
23andMe allrs104894274
SNP Nexus

SNPshotrs104894274
SNPdbers104894274
MSV3drs104894274
GWAS Ctlgrs104894274
Max Magnitude0
OMIM612719
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894274(T;T)
Alt rs104894274(T;T)
Reference rs104894274(C;C)
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.112097212C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000506.2,