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rs5030843

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 6 Phenyketonuria
(A;G) 3 Carrier of a phenylketonuria mutation
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/142
Chromosome12
Position102866632
GenePAH
is asnp
is mentioned by
dbSNPrs5030843
ebirs5030843
HLIrs5030843
Exacrs5030843
Varsomers5030843
Maprs5030843
PheGenIrs5030843
hapmaprs5030843
1000 genomesrs5030843
hgdprs5030843
ensemblrs5030843
gopubmedrs5030843
geneviewrs5030843
scholarrs5030843
googlers5030843
pharmgkbrs5030843
gwascentralrs5030843
openSNPrs5030843
23andMers5030843
23andMe allrs5030843
SNP Nexus

SNPshotrs5030843
SNPdbers5030843
MSV3drs5030843
GWAS Ctlgrs5030843
Max Magnitude6
OMIM612349
Desc
Variant0010
Relatedalso


ClinVar
Risk rs5030843(A,C;A,C)
Alt rs5030843(A,C;A,C)
Reference rs5030843(G;G)
Significance Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103260410C>G; NC_000012.11:g.103260410C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000088942.1, RCV000000618.6, RCV000078522.4,