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rs281865448

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 3 Carrier of a phenylketonuria mutation
Make rs281865448(C;C)
ReferenceGRCh38 38.1/142
Chromosome12
Position102866665
GenePAH
is asnp
is mentioned by
dbSNPrs281865448
ebirs281865448
HLIrs281865448
Exacrs281865448
Varsomers281865448
Maprs281865448
PheGenIrs281865448
hapmaprs281865448
1000 genomesrs281865448
hgdprs281865448
ensemblrs281865448
gopubmedrs281865448
geneviewrs281865448
scholarrs281865448
googlers281865448
pharmgkbrs281865448
gwascentralrs281865448
openSNPrs281865448
23andMers281865448
23andMe allrs281865448
SNP Nexus

SNPshotrs281865448
SNPdbers281865448
MSV3drs281865448
GWAS Ctlgrs281865448
Max Magnitude3
ClinVar
Risk rs281865448(C;C)
Alt rs281865448(C;C)
Reference rs281865448(A;A)
Significance Pathogenic
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103260443T>G
CLNSRC ClinVar
CLNACC RCV000106357.1, RCV000186072.1,