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rs5030859

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 5 phenylketonuria carrier
(A;G) 3 Carrier of a phenylketonuria mutation
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/142
Chromosome12
Position102840492
GenePAH
is asnp
is mentioned by
dbSNPrs5030859
ebirs5030859
HLIrs5030859
Exacrs5030859
Varsomers5030859
Maprs5030859
PheGenIrs5030859
hapmaprs5030859
1000 genomesrs5030859
hgdprs5030859
ensemblrs5030859
gopubmedrs5030859
geneviewrs5030859
scholarrs5030859
googlers5030859
pharmgkbrs5030859
gwascentralrs5030859
openSNPrs5030859
23andMers5030859
23andMe allrs5030859
SNP Nexus

SNPshotrs5030859
SNPdbers5030859
MSV3drs5030859
GWAS Ctlgrs5030859
Max Magnitude5
OMIM612349
Desc
Variant0038
Relatedalso
ClinVar
Risk rs5030859(A;A)
Alt rs5030859(A;A)
Reference rs5030859(G;G)
Significance Pathogenic
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103234270C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000643.5, RCV000088806.1,