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rs281865454

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Carrier of a phenylketonuria mutation
Make rs281865454(T;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position102894891
GenePAH
is asnp
is mentioned by
dbSNPrs281865454
ebirs281865454
HLIrs281865454
Exacrs281865454
Varsomers281865454
Maprs281865454
PheGenIrs281865454
hapmaprs281865454
1000 genomesrs281865454
hgdprs281865454
ensemblrs281865454
gopubmedrs281865454
geneviewrs281865454
scholarrs281865454
googlers281865454
pharmgkbrs281865454
gwascentralrs281865454
openSNPrs281865454
23andMers281865454
23andMe allrs281865454
SNP Nexus

SNPshotrs281865454
SNPdbers281865454
MSV3drs281865454
GWAS Ctlgrs281865454
Max Magnitude3
ClinVar
Risk rs281865454(T;T)
Alt rs281865454(T;T)
Reference rs281865454(G;G)
Significance Probable-Pathogenic
Disease Phenylketonuria
Variation info
Gene PAH
CLNDBN Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103288669C>A
CLNSRC ClinVar
CLNACC RCV000106351.1,