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rs118203921

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a phenylketonuria mutation
Make rs118203921(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position102852881
GenePAH
is asnp
is mentioned by
dbSNPrs118203921
ebirs118203921
HLIrs118203921
Exacrs118203921
Varsomers118203921
Maprs118203921
PheGenIrs118203921
hapmaprs118203921
1000 genomesrs118203921
hgdprs118203921
ensemblrs118203921
gopubmedrs118203921
geneviewrs118203921
scholarrs118203921
googlers118203921
pharmgkbrs118203921
gwascentralrs118203921
openSNPrs118203921
23andMers118203921
23andMe allrs118203921
SNP Nexus

SNPshotrs118203921
SNPdbers118203921
MSV3drs118203921
GWAS Ctlgrs118203921
Merged fromRs28934900
Max Magnitude3
OMIM612349
Desc
Variant0028
Relatedalso
ClinVar
Risk rs118203921(T;T)
Alt rs118203921(T;T)
Reference rs118203921(C;C)
Significance Pathogenic
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103246659G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000633.3, RCV000089089.1,