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rs281865439

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865439(C;T)
Make rs281865439(T;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position102894737
GenePAH
is asnp
is mentioned by
dbSNPrs281865439
ebirs281865439
HLIrs281865439
Exacrs281865439
Varsomers281865439
Maprs281865439
PheGenIrs281865439
hapmaprs281865439
1000 genomesrs281865439
hgdprs281865439
ensemblrs281865439
gopubmedrs281865439
geneviewrs281865439
scholarrs281865439
googlers281865439
pharmgkbrs281865439
gwascentralrs281865439
openSNPrs281865439
23andMers281865439
23andMe allrs281865439
SNP Nexus

SNPshotrs281865439
SNPdbers281865439
MSV3drs281865439
GWAS Ctlgrs281865439
Max Magnitude0
ClinVar
Risk rs281865439(T;T)
Alt rs281865439(T;T)
Reference rs281865439(C;C)
Significance Probable-Pathogenic
Disease Phenylketonuria
Variation info
Gene PAH
CLNDBN Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103288515G>A
CLNSRC ClinVar
CLNACC RCV000106354.1,