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rs5030654

From SNPedia

Orientationminus
Geno Mag Summary
(-;G) 3 Carrier of a phenylketonuria mutation
(G;G) 0 common in clinvar


Make rs5030654(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position102843756
GenePAH
is asnp
is mentioned by
dbSNPrs5030654
ebirs5030654
HLIrs5030654
Exacrs5030654
Varsomers5030654
Maprs5030654
PheGenIrs5030654
hapmaprs5030654
1000 genomesrs5030654
hgdprs5030654
ensemblrs5030654
gopubmedrs5030654
geneviewrs5030654
scholarrs5030654
googlers5030654
pharmgkbrs5030654
gwascentralrs5030654
openSNPrs5030654
23andMers5030654
23andMe allrs5030654
SNP Nexus

SNPshotrs5030654
SNPdbers5030654
MSV3drs5030654
GWAS Ctlgrs5030654
Max Magnitude3
ClinVar
Risk rs5030654(;)
Alt rs5030654(;)
Reference rs5030654(G;G)
Significance Probable-Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103237534delC
CLNSRC
CLNACC RCV000088751.1, RCV000169397.1,