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rs5030846

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a phenylketonuria mutation
(T;T) 6 Phenyketonuria
ReferenceGRCh38 38.1/142
Chromosome12
Position102852930
GenePAH
is asnp
is mentioned by
dbSNPrs5030846
ebirs5030846
HLIrs5030846
Exacrs5030846
Varsomers5030846
Maprs5030846
PheGenIrs5030846
hapmaprs5030846
1000 genomesrs5030846
hgdprs5030846
ensemblrs5030846
gopubmedrs5030846
geneviewrs5030846
scholarrs5030846
googlers5030846
pharmgkbrs5030846
gwascentralrs5030846
openSNPrs5030846
23andMers5030846
23andMe allrs5030846
SNP Nexus

SNPshotrs5030846
SNPdbers5030846
MSV3drs5030846
GWAS Ctlgrs5030846
Max Magnitude6
OMIM612349
Desc
Variant0011
Relatedalso
ClinVar
Risk rs5030846(T;T)
Alt rs5030846(T;T)
Reference rs5030846(C;C)
Significance Pathogenic
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103246708G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000000619.6, RCV000078528.3,