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rs5030861

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 6 Phenylketonuria
(A;G) 3 Carrier of a phenylketonuria mutation
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome12
Position102840399
GenePAH
is asnp
is mentioned by
dbSNPrs5030861
ebirs5030861
HLIrs5030861
Exacrs5030861
Varsomers5030861
Maprs5030861
PheGenIrs5030861
hapmaprs5030861
1000 genomesrs5030861
hgdprs5030861
ensemblrs5030861
gopubmedrs5030861
geneviewrs5030861
scholarrs5030861
googlers5030861
pharmgkbrs5030861
gwascentralrs5030861
openSNPrs5030861
23andMers5030861
23andMe allrs5030861
SNP Nexus

SNPshotrs5030861
SNPdbers5030861
MSV3drs5030861
GWAS Ctlgrs5030861
Max Magnitude6
Phenylketonuria


ClinVar
Risk rs5030861(A;A)
Alt rs5030861(A;A)
Reference rs5030861(G;G)
Significance Pathogenic
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103234177C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000606.5, RCV000078510.4,