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rs398123294

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123294(G;T)
Make rs398123294(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position102846909
GenePAH
is asnp
is mentioned by
dbSNPrs398123294
ebirs398123294
HLIrs398123294
Exacrs398123294
Varsomers398123294
Maprs398123294
PheGenIrs398123294
hapmaprs398123294
1000 genomesrs398123294
hgdprs398123294
ensemblrs398123294
gopubmedrs398123294
geneviewrs398123294
scholarrs398123294
googlers398123294
pharmgkbrs398123294
gwascentralrs398123294
openSNPrs398123294
23andMers398123294
23andMe allrs398123294
SNP Nexus

SNPshotrs398123294
SNPdbers398123294
MSV3drs398123294
GWAS Ctlgrs398123294
Max Magnitude0
ClinVar
Risk rs398123294(T;T)
Alt rs398123294(T;T)
Reference rs398123294(G;G)
Significance Pathogenic
Disease Phenylketonuria
Variation info
Gene PAH
CLNDBN Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103240687C>A
CLNSRC ClinVar Emory University
CLNACC RCV000078539.4,