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

rs140945592

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 3 Carrier of a phenylketonuria mutation
(C;C) 0 common in clinvar
Make rs140945592(C;T)
Make rs140945592(T;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position102894918
GenePAH
is asnp
is mentioned by
dbSNPrs140945592
ebirs140945592
HLIrs140945592
Exacrs140945592
Varsomers140945592
Maprs140945592
PheGenIrs140945592
hapmaprs140945592
1000 genomesrs140945592
hgdprs140945592
ensemblrs140945592
gopubmedrs140945592
geneviewrs140945592
scholarrs140945592
googlers140945592
pharmgkbrs140945592
gwascentralrs140945592
openSNPrs140945592
23andMers140945592
23andMe allrs140945592
SNP Nexus

SNPshotrs140945592
SNPdbers140945592
MSV3drs140945592
GWAS Ctlgrs140945592
Max Magnitude3
ClinVar
Risk rs140945592(A,T;A,T)
Alt rs140945592(A,T;A,T)
Reference rs140945592(C;C)
Significance Probable-Pathogenic
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 0
HGVS NC_000012.11:g.103288696C>A; NC_000012.11:g.103288696C>T
CLNSRC HGMD
CLNACC RCV000106349.1, RCV000078515.4,