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rs281865443

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865443(C;T)
Make rs281865443(T;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position102855210
GenePAH
is asnp
is mentioned by
dbSNPrs281865443
ebirs281865443
HLIrs281865443
Exacrs281865443
Varsomers281865443
Maprs281865443
PheGenIrs281865443
hapmaprs281865443
1000 genomesrs281865443
hgdprs281865443
ensemblrs281865443
gopubmedrs281865443
geneviewrs281865443
scholarrs281865443
googlers281865443
pharmgkbrs281865443
gwascentralrs281865443
openSNPrs281865443
23andMers281865443
23andMe allrs281865443
SNP Nexus

SNPshotrs281865443
SNPdbers281865443
MSV3drs281865443
GWAS Ctlgrs281865443
Max Magnitude0
ClinVar
Risk rs281865443(T;T)
Alt rs281865443(T;T)
Reference rs281865443(C;C)
Significance Probable-Pathogenic
Disease Phenylketonuria
Variation info
Gene PAH
CLNDBN Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103248988G>A
CLNSRC ClinVar
CLNACC RCV000106364.1,