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

rs118203923

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a phenylketonuria mutation
Make rs118203923(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position102852926
GenePAH
is asnp
is mentioned by
dbSNPrs118203923
ebirs118203923
HLIrs118203923
Exacrs118203923
Varsomers118203923
Maprs118203923
PheGenIrs118203923
hapmaprs118203923
1000 genomesrs118203923
hgdprs118203923
ensemblrs118203923
gopubmedrs118203923
geneviewrs118203923
scholarrs118203923
googlers118203923
pharmgkbrs118203923
gwascentralrs118203923
openSNPrs118203923
23andMers118203923
23andMe allrs118203923
SNP Nexus

SNPshotrs118203923
SNPdbers118203923
MSV3drs118203923
GWAS Ctlgrs118203923
Max Magnitude3
OMIM612349
Desc
Variant0047
Relatedalso
ClinVar
Risk rs118203923(T;T)
Alt rs118203923(T;T)
Reference rs118203923(C;C)
Significance Pathogenic
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103246704G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000652.4, RCV000089061.1,