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rs5030845

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs5030845(C;C)
Make rs5030845(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position102855151
GenePAH
is asnp
is mentioned by
dbSNPrs5030845
ebirs5030845
HLIrs5030845
Exacrs5030845
Varsomers5030845
Maprs5030845
PheGenIrs5030845
hapmaprs5030845
1000 genomesrs5030845
hgdprs5030845
ensemblrs5030845
gopubmedrs5030845
geneviewrs5030845
scholarrs5030845
googlers5030845
pharmgkbrs5030845
gwascentralrs5030845
openSNPrs5030845
23andMers5030845
23andMe allrs5030845
SNP Nexus

SNPshotrs5030845
SNPdbers5030845
MSV3drs5030845
GWAS Ctlgrs5030845
Max Magnitude0
ClinVar
Risk rs5030845(C;C)
Alt rs5030845(C;C)
Reference rs5030845(T;T)
Significance Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103248929A>G
CLNSRC
CLNACC RCV000089037.1, RCV000190611.1,