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rs74603784

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a phenylketonuria mutation
Make rs74603784(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position102912823
GenePAH
is asnp
is mentioned by
dbSNPrs74603784
ebirs74603784
HLIrs74603784
Exacrs74603784
Varsomers74603784
Maprs74603784
PheGenIrs74603784
hapmaprs74603784
1000 genomesrs74603784
hgdprs74603784
ensemblrs74603784
gopubmedrs74603784
geneviewrs74603784
scholarrs74603784
googlers74603784
pharmgkbrs74603784
gwascentralrs74603784
openSNPrs74603784
23andMers74603784
23andMe allrs74603784
SNP Nexus

SNPshotrs74603784
SNPdbers74603784
MSV3drs74603784
GWAS Ctlgrs74603784
Max Magnitude3
OMIM612349
Desc
Variant0055
Relatedalso
ClinVar
Risk rs74603784(T;T)
Alt rs74603784(T;T)
Reference rs74603784(C;C)
Significance Pathogenic
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 0
HGVS NC_000012.11:g.103306601C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000661.4, RCV000088836.1,