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rs5030858

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a phenylketonuria mutation
(T;T) 6 Phenylketonuria
ReferenceGRCh38 38.1/142
Chromosome12
Position102840493
GenePAH
is asnp
is mentioned by
dbSNPrs5030858
ebirs5030858
HLIrs5030858
Exacrs5030858
Varsomers5030858
Maprs5030858
PheGenIrs5030858
hapmaprs5030858
1000 genomesrs5030858
hgdprs5030858
ensemblrs5030858
gopubmedrs5030858
geneviewrs5030858
scholarrs5030858
googlers5030858
pharmgkbrs5030858
gwascentralrs5030858
openSNPrs5030858
23andMers5030858
23andMe allrs5030858
SNP Nexus

SNPshotrs5030858
SNPdbers5030858
MSV3drs5030858
GWAS Ctlgrs5030858
Merged fromRs28934898
GMAF0.0009183
Max Magnitude6

rs5030858, also known as Arg408Trp or R408W, is a SNP in the phenylalanine hydroxylase PAH gene on chromosome 12. If present in two copies, or present along with another PAH mutant, this SNP is associated with phenylketonuria.

A good write-up on this SNP can be found at OMIM.

OMIM612349
Desc
Variant0002
Relatedalso


ClinVar
Risk rs5030858(T;T)
Alt rs5030858(T;T)
Reference rs5030858(C;C)
Significance Pathogenic
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103234271G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000000607.7, RCV000078507.5,