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rs62514952

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Carrier of a phenylketonuria mutation
(T;T) 6 Phenyketonuria
ReferenceGRCh38 38.1/142
Chromosome12
Position102852843
GenePAH
is asnp
is mentioned by
dbSNPrs62514952
ebirs62514952
HLIrs62514952
Exacrs62514952
Varsomers62514952
Maprs62514952
PheGenIrs62514952
hapmaprs62514952
1000 genomesrs62514952
hgdprs62514952
ensemblrs62514952
gopubmedrs62514952
geneviewrs62514952
scholarrs62514952
googlers62514952
pharmgkbrs62514952
gwascentralrs62514952
openSNPrs62514952
23andMers62514952
23andMe allrs62514952
SNP Nexus

SNPshotrs62514952
SNPdbers62514952
MSV3drs62514952
GWAS Ctlgrs62514952
Max Magnitude6
OMIM612349
Desc
Variant0020
Relatedalso
ClinVar
Risk rs62514952(T;T)
Alt rs62514952(T;T)
Reference rs62514952(G;G)
Significance Pathogenic
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103246621C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000627.3, RCV000089110.2,