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rs5030857

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of Phenylketonuria allele
(T;T) 6 Phenylketonuria
ReferenceGRCh38 38.1/141
Chromosome12
Position102840507
GenePAH
is asnp
is mentioned by
dbSNPrs5030857
ebirs5030857
HLIrs5030857
Exacrs5030857
Varsomers5030857
Maprs5030857
PheGenIrs5030857
hapmaprs5030857
1000 genomesrs5030857
hgdprs5030857
ensemblrs5030857
gopubmedrs5030857
geneviewrs5030857
scholarrs5030857
googlers5030857
pharmgkbrs5030857
gwascentralrs5030857
openSNPrs5030857
23andMers5030857
23andMe allrs5030857
SNP Nexus

SNPshotrs5030857
SNPdbers5030857
MSV3drs5030857
GWAS Ctlgrs5030857
GMAF0.001377
Max Magnitude6
Phenylketonuria


ClinVar
Risk rs5030857(T;T)
Alt rs5030857(T;T)
Reference rs5030857(C;C)
Significance Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103234285G>A
CLNSRC HGMD
CLNACC RCV000078506.5, RCV000150075.5,