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rs62508736

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs62508736(C;G)
Make rs62508736(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position102843661
GenePAH
is asnp
is mentioned by
dbSNPrs62508736
dbSNP (old)rs62508736
ClinGenrs62508736
ebirs62508736
HLIrs62508736
Exacrs62508736
Gnomadrs62508736
Varsomers62508736
Maprs62508736
PheGenIrs62508736
Biobankrs62508736
1000 genomesrs62508736
hgdprs62508736
ensemblrs62508736
gopubmedrs62508736
geneviewrs62508736
scholarrs62508736
googlers62508736
pharmgkbrs62508736
gwascentralrs62508736
openSNPrs62508736
23andMers62508736
23andMe allrs62508736
SNP Nexus

SNPshotrs62508736
SNPdbers62508736
MSV3drs62508736
GWAS Ctlgrs62508736
Max Magnitude0
ClinVar
Risk rs62508736(A;A) rs62508736(G;G)
Alt rs62508736(A;A) rs62508736(G;G)
Reference Rs62508736(C;C)
Significance Probable-Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103237439G>C; NC_000012.11:g.103237439G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000088783.3, RCV000410586.2, RCV000088782.1,