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rs5030850

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a phenylketonuria mutation
(T;T) 6 Phenyketonuria
ReferenceGRCh38 38.1/142
Chromosome12
Position102852876
GenePAH
is asnp
is mentioned by
dbSNPrs5030850
ebirs5030850
HLIrs5030850
Exacrs5030850
Varsomers5030850
Maprs5030850
PheGenIrs5030850
hapmaprs5030850
1000 genomesrs5030850
hgdprs5030850
ensemblrs5030850
gopubmedrs5030850
geneviewrs5030850
scholarrs5030850
googlers5030850
pharmgkbrs5030850
gwascentralrs5030850
openSNPrs5030850
23andMers5030850
23andMe allrs5030850
SNP Nexus

SNPshotrs5030850
SNPdbers5030850
MSV3drs5030850
GWAS Ctlgrs5030850
Max Magnitude6
OMIM612349
Desc
Variant0036
Relatedalso


ClinVar
Risk rs5030850(G,T;G,T)
Alt rs5030850(G,T;G,T)
Reference rs5030850(C;C)
Significance Pathogenic
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103246654G>A; NC_000012.11:g.103246654G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000641.5, RCV000089090.1, RCV000119826.1,