Have questions? Visit https://www.reddit.com/r/SNPedia

rs398123292

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123292(C;T)
Make rs398123292(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position102877548
GenePAH
is asnp
is mentioned by
dbSNPrs398123292
ebirs398123292
HLIrs398123292
Exacrs398123292
Varsomers398123292
Maprs398123292
PheGenIrs398123292
hapmaprs398123292
1000 genomesrs398123292
hgdprs398123292
ensemblrs398123292
gopubmedrs398123292
geneviewrs398123292
scholarrs398123292
googlers398123292
pharmgkbrs398123292
gwascentralrs398123292
openSNPrs398123292
23andMers398123292
23andMe allrs398123292
SNP Nexus

SNPshotrs398123292
SNPdbers398123292
MSV3drs398123292
GWAS Ctlgrs398123292
Max Magnitude0
ClinVar
Risk rs398123292(T;T)
Alt rs398123292(T;T)
Reference rs398123292(C;C)
Significance Probable-Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103271326G>A
CLNSRC HGMD
CLNACC RCV000078520.3, RCV000178066.1,