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rs281865447

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281865447(A;T)
Make rs281865447(T;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position102843781
GenePAH
is asnp
is mentioned by
dbSNPrs281865447
ebirs281865447
HLIrs281865447
Exacrs281865447
Varsomers281865447
Maprs281865447
PheGenIrs281865447
hapmaprs281865447
1000 genomesrs281865447
hgdprs281865447
ensemblrs281865447
gopubmedrs281865447
geneviewrs281865447
scholarrs281865447
googlers281865447
pharmgkbrs281865447
gwascentralrs281865447
openSNPrs281865447
23andMers281865447
23andMe allrs281865447
SNP Nexus

SNPshotrs281865447
SNPdbers281865447
MSV3drs281865447
GWAS Ctlgrs281865447
Max Magnitude0
ClinVar
Risk rs281865447(T;T)
Alt rs281865447(T;T)
Reference rs281865447(A;A)
Significance Probable-Pathogenic
Disease Phenylketonuria
Variation info
Gene PAH
CLNDBN Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103237559T>A
CLNSRC ClinVar
CLNACC RCV000106339.1,