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rs5030851

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 Carrier of a phenylketonuria mutation
(C;T) 3 Carrier of a phenylketonuria mutation
(T;T) 6 Phenyketonuria
ReferenceGRCh38 38.1/142
Chromosome12
Position102852815
GenePAH
is asnp
is mentioned by
dbSNPrs5030851
ebirs5030851
HLIrs5030851
Exacrs5030851
Varsomers5030851
Maprs5030851
PheGenIrs5030851
hapmaprs5030851
1000 genomesrs5030851
hgdprs5030851
ensemblrs5030851
gopubmedrs5030851
geneviewrs5030851
scholarrs5030851
googlers5030851
pharmgkbrs5030851
gwascentralrs5030851
openSNPrs5030851
23andMers5030851
23andMe allrs5030851
SNP Nexus

SNPshotrs5030851
SNPdbers5030851
MSV3drs5030851
GWAS Ctlgrs5030851
Max Magnitude6
OMIM612349
Desc
Variant0012
Relatedalso
ClinVar
Risk rs5030851(T;T)
Alt rs5030851(T;T)
Reference rs5030851(C;C)
Significance Pathogenic
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103246593G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000000620.8, RCV000078534.3,