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rs62644473

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a phenylketonuria mutation
Make rs62644473(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position102840495
GenePAH
is asnp
is mentioned by
dbSNPrs62644473
ebirs62644473
HLIrs62644473
Exacrs62644473
Varsomers62644473
Maprs62644473
PheGenIrs62644473
hapmaprs62644473
1000 genomesrs62644473
hgdprs62644473
ensemblrs62644473
gopubmedrs62644473
geneviewrs62644473
scholarrs62644473
googlers62644473
pharmgkbrs62644473
gwascentralrs62644473
openSNPrs62644473
23andMers62644473
23andMe allrs62644473
SNP Nexus

SNPshotrs62644473
SNPdbers62644473
MSV3drs62644473
GWAS Ctlgrs62644473
Max Magnitude3
OMIM612349
Desc
Variant0062
Relatedalso
ClinVar
Risk rs62644473(T;T)
Alt rs62644473(T;T)
Reference rs62644473(C;C)
Significance Pathogenic
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103234273G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000667.4, RCV000088804.1,