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rs5030860

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 carrier of Phenylketonuria allele
(G;G) 6 Phenyketonuria
ReferenceGRCh38 38.1/142
Chromosome12
Position102840474
GenePAH
is asnp
is mentioned by
dbSNPrs5030860
ebirs5030860
HLIrs5030860
Exacrs5030860
Varsomers5030860
Maprs5030860
PheGenIrs5030860
hapmaprs5030860
1000 genomesrs5030860
hgdprs5030860
ensemblrs5030860
gopubmedrs5030860
geneviewrs5030860
scholarrs5030860
googlers5030860
pharmgkbrs5030860
gwascentralrs5030860
openSNPrs5030860
23andMers5030860
23andMe allrs5030860
SNP Nexus

SNPshotrs5030860
SNPdbers5030860
MSV3drs5030860
GWAS Ctlgrs5030860
Max Magnitude6
OMIM612349
Desc
Variant0017
Relatedalso


ClinVar
Risk rs5030860(G;G)
Alt rs5030860(G;G)
Reference rs5030860(A;A)
Significance Pathogenic
Disease Hyperphenylalaninemia not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN Hyperphenylalaninemia, non-pku not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103234252T>C
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000000624.4, RCV000078508.4, RCV000150074.3,