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rs5030841

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 6 Phenylketonuria
(C;T) 3 Carrier of a phenylketonuria mutation
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome12
Position102912816
GenePAH
is asnp
is mentioned by
dbSNPrs5030841
ebirs5030841
HLIrs5030841
Exacrs5030841
Varsomers5030841
Maprs5030841
PheGenIrs5030841
hapmaprs5030841
1000 genomesrs5030841
hgdprs5030841
ensemblrs5030841
gopubmedrs5030841
geneviewrs5030841
scholarrs5030841
googlers5030841
pharmgkbrs5030841
gwascentralrs5030841
openSNPrs5030841
23andMers5030841
23andMe allrs5030841
SNP Nexus

SNPshotrs5030841
SNPdbers5030841
MSV3drs5030841
GWAS Ctlgrs5030841
Max Magnitude6
OMIM612349
Desc
Variant0034
Relatedalso


ClinVar
Risk rs5030841(C;C)
Alt rs5030841(C;C)
Reference rs5030841(T;T)
Significance Pathogenic
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103306594A>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000000639.6, RCV000078511.5,