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rs5030854

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 Carrier of a phenylketonuria mutation
Make rs5030854(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position102843769
GenePAH
is asnp
is mentioned by
dbSNPrs5030854
ebirs5030854
HLIrs5030854
Exacrs5030854
Varsomers5030854
Maprs5030854
PheGenIrs5030854
hapmaprs5030854
1000 genomesrs5030854
hgdprs5030854
ensemblrs5030854
gopubmedrs5030854
geneviewrs5030854
scholarrs5030854
googlers5030854
pharmgkbrs5030854
gwascentralrs5030854
openSNPrs5030854
23andMers5030854
23andMe allrs5030854
SNP Nexus

SNPshotrs5030854
SNPdbers5030854
MSV3drs5030854
GWAS Ctlgrs5030854
Max Magnitude3
OMIM612349
Desc
Variant0052
Relatedalso
ClinVar
Risk rs5030854(G;G)
Alt rs5030854(G;G)
Reference rs5030854(C;C)
Significance Pathogenic
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103237547G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000658.3, RCV000088747.1,