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rs281865438

From SNPedia

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


Make rs281865438(C;C)
ReferenceGRCh38 38.1/142
Chromosome12
Position102912795
GenePAH
is asnp
is mentioned by
dbSNPrs281865438
ebirs281865438
HLIrs281865438
Exacrs281865438
Varsomers281865438
Maprs281865438
PheGenIrs281865438
hapmaprs281865438
1000 genomesrs281865438
hgdprs281865438
ensemblrs281865438
gopubmedrs281865438
geneviewrs281865438
scholarrs281865438
googlers281865438
pharmgkbrs281865438
gwascentralrs281865438
openSNPrs281865438
23andMers281865438
23andMe allrs281865438
SNP Nexus

SNPshotrs281865438
SNPdbers281865438
MSV3drs281865438
GWAS Ctlgrs281865438
Max Magnitude3
ClinVar
Risk rs281865438(C;C)
Alt rs281865438(C;C)
Reference rs281865438(T;T)
Significance Probable-Pathogenic
Disease Phenylketonuria
Variation info
Gene PAH
CLNDBN Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103306573A>G
CLNSRC ClinVar
CLNACC RCV000106347.1,