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rs5030853

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 carrier of Phenylketonuria allele
(T;T) 6 Phenylketonuria
ReferenceGRCh38 38.1/141
Chromosome12
Position102851701
GenePAH
is asnp
is mentioned by
dbSNPrs5030853
ebirs5030853
HLIrs5030853
Exacrs5030853
Varsomers5030853
Maprs5030853
PheGenIrs5030853
hapmaprs5030853
1000 genomesrs5030853
hgdprs5030853
ensemblrs5030853
gopubmedrs5030853
geneviewrs5030853
scholarrs5030853
googlers5030853
pharmgkbrs5030853
gwascentralrs5030853
openSNPrs5030853
23andMers5030853
23andMe allrs5030853
SNP Nexus

SNPshotrs5030853
SNPdbers5030853
MSV3drs5030853
GWAS Ctlgrs5030853
Max Magnitude6
Phenylketonuria


ClinVar
Risk rs5030853(T;T)
Alt rs5030853(T;T)
Reference rs5030853(G;G)
Significance Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103245479C>A
CLNSRC HGMD
CLNACC RCV000078536.4, RCV000150084.4,