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rs62508588

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 6 Phenyketonuria
(A;G) 3 Carrier of a phenylketonuria mutation
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome12
Position102852929
GenePAH
is asnp
is mentioned by
dbSNPrs62508588
ebirs62508588
HLIrs62508588
Exacrs62508588
Varsomers62508588
Maprs62508588
PheGenIrs62508588
hapmaprs62508588
1000 genomesrs62508588
hgdprs62508588
ensemblrs62508588
gopubmedrs62508588
geneviewrs62508588
scholarrs62508588
googlers62508588
pharmgkbrs62508588
gwascentralrs62508588
openSNPrs62508588
23andMers62508588
23andMe allrs62508588
SNP Nexus

SNPshotrs62508588
SNPdbers62508588
MSV3drs62508588
GWAS Ctlgrs62508588
Max Magnitude6
OMIM612349
Desc
Variant0014
Relatedalso


ClinVar
Risk rs62508588(A,T;A,T)
Alt rs62508588(A,T;A,T)
Reference rs62508588(G;G)
Significance Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103246707C>A; NC_000012.11:g.103246707C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000089060.1, RCV000000622.3, RCV000089059.3,