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rs281865455

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;C) 3 Carrier of a phenylketonuria mutation
(C;C) 0 common in clinvar


Make rs281865455(A;A)
ReferenceGRCh38 38.1/142
Chromosome12
Position102866601
GenePAH
is asnp
is mentioned by
dbSNPrs281865455
ebirs281865455
HLIrs281865455
Exacrs281865455
Varsomers281865455
Maprs281865455
PheGenIrs281865455
hapmaprs281865455
1000 genomesrs281865455
hgdprs281865455
ensemblrs281865455
gopubmedrs281865455
geneviewrs281865455
scholarrs281865455
googlers281865455
pharmgkbrs281865455
gwascentralrs281865455
openSNPrs281865455
23andMers281865455
23andMe allrs281865455
SNP Nexus

SNPshotrs281865455
SNPdbers281865455
MSV3drs281865455
GWAS Ctlgrs281865455
Max Magnitude3
ClinVar
Risk rs281865455(A;A)
Alt rs281865455(A;A)
Reference rs281865455(C;C)
Significance Probable-Pathogenic
Disease Phenylketonuria
Variation info
Gene PAH
CLNDBN Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103260379G>T
CLNSRC ClinVar
CLNACC RCV000106358.1,