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rs281865449

From SNPedia

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


Make rs281865449(C;C)
ReferenceGRCh38 38.1/142
Chromosome12
Position102851685
GenePAH
is asnp
is mentioned by
dbSNPrs281865449
ebirs281865449
HLIrs281865449
Exacrs281865449
Varsomers281865449
Maprs281865449
PheGenIrs281865449
hapmaprs281865449
1000 genomesrs281865449
hgdprs281865449
ensemblrs281865449
gopubmedrs281865449
geneviewrs281865449
scholarrs281865449
googlers281865449
pharmgkbrs281865449
gwascentralrs281865449
openSNPrs281865449
23andMers281865449
23andMe allrs281865449
SNP Nexus

SNPshotrs281865449
SNPdbers281865449
MSV3drs281865449
GWAS Ctlgrs281865449
Max Magnitude3
ClinVar
Risk rs281865449(C;C)
Alt rs281865449(C;C)
Reference rs281865449(T;T)
Significance Probable-Pathogenic
Disease Phenylketonuria
Variation info
Gene PAH
CLNDBN Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103245463A>G
CLNSRC ClinVar
CLNACC RCV000106373.1,