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rs5030856

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 carrier of Phenylketonuria allele
Make rs5030856(G;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position102843676
GenePAH
is asnp
is mentioned by
dbSNPrs5030856
ebirs5030856
HLIrs5030856
Exacrs5030856
Varsomers5030856
Maprs5030856
PheGenIrs5030856
hapmaprs5030856
1000 genomesrs5030856
hgdprs5030856
ensemblrs5030856
gopubmedrs5030856
geneviewrs5030856
scholarrs5030856
googlers5030856
pharmgkbrs5030856
gwascentralrs5030856
openSNPrs5030856
23andMers5030856
23andMe allrs5030856
SNP Nexus

SNPshotrs5030856
SNPdbers5030856
MSV3drs5030856
GWAS Ctlgrs5030856
Max Magnitude3
OMIM612349
Desc
Variant0051
Relatedalso


ClinVar
Risk rs5030856(G;G)
Alt rs5030856(G;G)
Reference rs5030856(A;A)
Significance Pathogenic
Disease Hyperphenylalaninemia Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Hyperphenylalaninemia, non-pku Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103237454T>C
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000000656.4, RCV000000657.7, RCV000078503.5,