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rs5030852

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
(G;T) 3 Carrier of a phenylketonuria mutation
ReferenceGRCh38 38.1/141
Chromosome12
Position102852814
GenePAH
is asnp
is mentioned by
dbSNPrs5030852
ebirs5030852
HLIrs5030852
Exacrs5030852
Varsomers5030852
Maprs5030852
PheGenIrs5030852
hapmaprs5030852
1000 genomesrs5030852
hgdprs5030852
ensemblrs5030852
gopubmedrs5030852
geneviewrs5030852
scholarrs5030852
googlers5030852
pharmgkbrs5030852
gwascentralrs5030852
openSNPrs5030852
23andMers5030852
23andMe allrs5030852
SNP Nexus

SNPshotrs5030852
SNPdbers5030852
MSV3drs5030852
GWAS Ctlgrs5030852
Max Magnitude6
Phenylketonuria


ClinVar
Risk rs5030852(A,T;A,T)
Alt rs5030852(A,T;A,T)
Reference rs5030852(G;G)
Significance Other
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103246592C>A; NC_000012.11:g.103246592C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000089130.1, RCV000000630.4, RCV000089129.1,