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rs5030855

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 6 Phenylketonuria
(A;G) 3 Carrier of a phenylketonuria mutation
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome12
Position102843790
GenePAH
is asnp
is mentioned by
dbSNPrs5030855
ebirs5030855
HLIrs5030855
Exacrs5030855
Varsomers5030855
Maprs5030855
PheGenIrs5030855
hapmaprs5030855
1000 genomesrs5030855
hgdprs5030855
ensemblrs5030855
gopubmedrs5030855
geneviewrs5030855
scholarrs5030855
googlers5030855
pharmgkbrs5030855
gwascentralrs5030855
openSNPrs5030855
23andMers5030855
23andMe allrs5030855
SNP Nexus

SNPshotrs5030855
SNPdbers5030855
MSV3drs5030855
GWAS Ctlgrs5030855
GMAF0.001377
Max Magnitude6
Phenylketonuria


ClinVar
Risk rs5030855(A;A)
Alt rs5030855(A;A)
Reference rs5030855(G;G)
Significance Pathogenic
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103237568C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000638.5, RCV000078500.4,