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rs281865436

From SNPedia

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


Make rs281865436(C;C)
ReferenceGRCh38 38.1/142
Chromosome12
Position102843649
GenePAH
is asnp
is mentioned by
dbSNPrs281865436
ebirs281865436
HLIrs281865436
Exacrs281865436
Varsomers281865436
Maprs281865436
PheGenIrs281865436
hapmaprs281865436
1000 genomesrs281865436
hgdprs281865436
ensemblrs281865436
gopubmedrs281865436
geneviewrs281865436
scholarrs281865436
googlers281865436
pharmgkbrs281865436
gwascentralrs281865436
openSNPrs281865436
23andMers281865436
23andMe allrs281865436
SNP Nexus

SNPshotrs281865436
SNPdbers281865436
MSV3drs281865436
GWAS Ctlgrs281865436
Max Magnitude3
ClinVar
Risk rs281865436(C;C)
Alt rs281865436(C;C)
Reference rs281865436(T;T)
Significance Probable-Pathogenic
Disease Phenylketonuria
Variation info
Gene PAH
CLNDBN Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103237427A>G
CLNSRC ClinVar
CLNACC RCV000106344.1,