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rs281865450

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 3 Carrier of a phenylketonuria mutation
Make rs281865450(C;C)
ReferenceGRCh38 38.1/142
Chromosome12
Position102851684
GenePAH
is asnp
is mentioned by
dbSNPrs281865450
ebirs281865450
HLIrs281865450
Exacrs281865450
Varsomers281865450
Maprs281865450
PheGenIrs281865450
hapmaprs281865450
1000 genomesrs281865450
hgdprs281865450
ensemblrs281865450
gopubmedrs281865450
geneviewrs281865450
scholarrs281865450
googlers281865450
pharmgkbrs281865450
gwascentralrs281865450
openSNPrs281865450
23andMers281865450
23andMe allrs281865450
SNP Nexus

SNPshotrs281865450
SNPdbers281865450
MSV3drs281865450
GWAS Ctlgrs281865450
Max Magnitude3
ClinVar
Risk rs281865450(C;C)
Alt rs281865450(C;C)
Reference rs281865450(A;A)
Significance Probable-Pathogenic
Disease Phenylketonuria
Variation info
Gene PAH
CLNDBN Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103245462T>G
CLNSRC ClinVar
CLNACC RCV000106374.1,