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rs5030856

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Carrier of a non-phenylketonuria hyperphenylalaninemia allele
(G;G) 5.9 Non-phenylketonuria hyperphenylalaninemia genotype
ReferenceGRCh38 38.1/142
Chromosome12
Position102843676
GenePAH
is asnp
is mentioned by
dbSNPrs5030856
dbSNP (old)rs5030856
ClinGenrs5030856
ebirs5030856
HLIrs5030856
Exacrs5030856
Gnomadrs5030856
Varsomers5030856
Maprs5030856
PheGenIrs5030856
Biobankrs5030856
1000 genomesrs5030856
hgdprs5030856
ensemblrs5030856
gopubmedrs5030856
geneviewrs5030856
scholarrs5030856
googlers5030856
pharmgkbrs5030856
gwascentralrs5030856
openSNPrs5030856
23andMers5030856
23andMe allrs5030856
SNP Nexus

SNPshotrs5030856
SNPdbers5030856
MSV3drs5030856
GWAS Ctlgrs5030856
Max Magnitude5.9
OMIM612349
Desc
Variant0051
Relatedalso


ClinVar
Risk Rs5030856(G;G)
Alt Rs5030856(G;G)
Reference Rs5030856(A;A)
Significance Other
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 UniProtKB (protein)
CLNACC RCV000000656.4, RCV000000657.7, RCV000078503.6,