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rs62516146

From SNPedia

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


Make rs62516146(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position102852810
GenePAH
is asnp
is mentioned by
dbSNPrs62516146
ebirs62516146
HLIrs62516146
Exacrs62516146
Varsomers62516146
Maprs62516146
PheGenIrs62516146
hapmaprs62516146
1000 genomesrs62516146
hgdprs62516146
ensemblrs62516146
gopubmedrs62516146
geneviewrs62516146
scholarrs62516146
googlers62516146
pharmgkbrs62516146
gwascentralrs62516146
openSNPrs62516146
23andMers62516146
23andMe allrs62516146
SNP Nexus

SNPshotrs62516146
SNPdbers62516146
MSV3drs62516146
GWAS Ctlgrs62516146
Max Magnitude3
ClinVar
Risk rs62516146(A;A)
Alt rs62516146(A;A)
Reference rs62516146(G;G)
Significance Probable-Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103246588C>T
CLNSRC
CLNACC RCV000089133.1, RCV000169348.2,