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rs62516060

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a phenylketonuria mutation
Make rs62516060(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position102844404
GenePAH
is asnp
is mentioned by
dbSNPrs62516060
ebirs62516060
HLIrs62516060
Exacrs62516060
Varsomers62516060
Maprs62516060
PheGenIrs62516060
hapmaprs62516060
1000 genomesrs62516060
hgdprs62516060
ensemblrs62516060
gopubmedrs62516060
geneviewrs62516060
scholarrs62516060
googlers62516060
pharmgkbrs62516060
gwascentralrs62516060
openSNPrs62516060
23andMers62516060
23andMe allrs62516060
SNP Nexus

SNPshotrs62516060
SNPdbers62516060
MSV3drs62516060
GWAS Ctlgrs62516060
Max Magnitude3
OMIM612349
Desc
Variant0050
Relatedalso


ClinVar
Risk rs62516060(T;T)
Alt rs62516060(T;T)
Reference rs62516060(C;C)
Significance Pathogenic
Disease Hyperphenylalaninemia not provided
Variation info
Gene PAH
CLNDBN Hyperphenylalaninemia, non-pku not provided
Reversed 1
HGVS NC_000012.11:g.103238182G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000655.3, RCV000089195.1,