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rs5030847

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 Carrier of a phenylketonuria mutation
(C;T) 3 Carrier of a phenylketonuria mutation
(T;T) 6 Phenyketonuria
ReferenceGRCh38 38.1/142
Chromosome12
Position102852903
GenePAH
is asnp
is mentioned by
dbSNPrs5030847
ebirs5030847
HLIrs5030847
Exacrs5030847
Varsomers5030847
Maprs5030847
PheGenIrs5030847
hapmaprs5030847
1000 genomesrs5030847
hgdprs5030847
ensemblrs5030847
gopubmedrs5030847
geneviewrs5030847
scholarrs5030847
googlers5030847
pharmgkbrs5030847
gwascentralrs5030847
openSNPrs5030847
23andMers5030847
23andMe allrs5030847
SNP Nexus

SNPshotrs5030847
SNPdbers5030847
MSV3drs5030847
GWAS Ctlgrs5030847
Max Magnitude6
OMIM612349
Desc
Variant0007
Relatedalso


ClinVar
Risk rs5030847(G,T;G,T)
Alt rs5030847(G,T;G,T)
Reference rs5030847(C;C)
Significance Other
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103246681G>A; NC_000012.11:g.103246681G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000614.6, RCV000089079.2, RCV000201954.1, RCV000089078.1,