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rs62516094

From SNPedia

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


Make rs62516094(-;-)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102844346
GenePAH
is asnp
is mentioned by
dbSNPrs62516094
dbSNP (old)rs62516094
ClinGenrs62516094
ebirs62516094
HLIrs62516094
Exacrs62516094
Gnomadrs62516094
Varsomers62516094
Maprs62516094
PheGenIrs62516094
Biobankrs62516094
1000 genomesrs62516094
hgdprs62516094
ensemblrs62516094
gopubmedrs62516094
geneviewrs62516094
scholarrs62516094
googlers62516094
pharmgkbrs62516094
gwascentralrs62516094
openSNPrs62516094
23andMers62516094
23andMe allrs62516094
SNP Nexus

SNPshotrs62516094
SNPdbers62516094
MSV3drs62516094
GWAS Ctlgrs62516094
Max Magnitude3
ClinVar
Risk rs62516094(-;-)
Alt rs62516094(-;-)
Reference Rs62516094(G;G)
Significance Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103238124delC
CLNSRC
CLNACC RCV000088729.1, RCV000267428.1,