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rs62516142

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs62516142(C;C)
Make rs62516142(C;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position102843665
GenePAH
is asnp
is mentioned by
dbSNPrs62516142
ebirs62516142
HLIrs62516142
Exacrs62516142
Varsomers62516142
Maprs62516142
PheGenIrs62516142
hapmaprs62516142
1000 genomesrs62516142
hgdprs62516142
ensemblrs62516142
gopubmedrs62516142
geneviewrs62516142
scholarrs62516142
googlers62516142
pharmgkbrs62516142
gwascentralrs62516142
openSNPrs62516142
23andMers62516142
23andMe allrs62516142
SNP Nexus

SNPshotrs62516142
SNPdbers62516142
MSV3drs62516142
GWAS Ctlgrs62516142
Max Magnitude0
ClinVar
Risk rs62516142(C,T;C,T)
Alt rs62516142(C,T;C,T)
Reference rs62516142(G;G)
Significance Probable-Pathogenic
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103237443C>A; NC_000012.11:g.103237443C>G
CLNSRC ClinVar DeBelle Laboratory for Biochemical Genetics
CLNACC RCV000106343.1, RCV000088779.1,