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rs281865452

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Carrier of a phenylketonuria mutation
Make rs281865452(G;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position102846959
GenePAH
is asnp
is mentioned by
dbSNPrs281865452
ebirs281865452
HLIrs281865452
Exacrs281865452
Varsomers281865452
Maprs281865452
PheGenIrs281865452
hapmaprs281865452
1000 genomesrs281865452
hgdprs281865452
ensemblrs281865452
gopubmedrs281865452
geneviewrs281865452
scholarrs281865452
googlers281865452
pharmgkbrs281865452
gwascentralrs281865452
openSNPrs281865452
23andMers281865452
23andMe allrs281865452
SNP Nexus

SNPshotrs281865452
SNPdbers281865452
MSV3drs281865452
GWAS Ctlgrs281865452
Max Magnitude3
ClinVar
Risk rs281865452(G;G)
Alt rs281865452(G;G)
Reference rs281865452(A;A)
Significance Probable-Pathogenic
Disease Phenylketonuria
Variation info
Gene PAH
CLNDBN Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103240737T>C
CLNSRC ClinVar
CLNACC RCV000106376.1,