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rs62508642

From SNPedia

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


Make rs62508642(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102877459
GenePAH
is asnp
is mentioned by
dbSNPrs62508642
dbSNP (classic)rs62508642
ClinGenrs62508642
ebirs62508642
HLIrs62508642
Exacrs62508642
Gnomadrs62508642
Varsomers62508642
LitVarrs62508642
Maprs62508642
PheGenIrs62508642
Biobankrs62508642
1000 genomesrs62508642
hgdprs62508642
ensemblrs62508642
geneviewrs62508642
scholarrs62508642
googlers62508642
pharmgkbrs62508642
gwascentralrs62508642
openSNPrs62508642
23andMers62508642
SNPshotrs62508642
SNPdbers62508642
MSV3drs62508642
GWAS Ctlgrs62508642
Max Magnitude3
ClinVar
Risk rs62508642(C;C)
Alt rs62508642(C;C)
Reference Rs62508642(G;G)
Significance Untested
Disease not provided
Variation info
Gene PAH
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.103271237C>G
CLNSRC
CLNACC RCV000088920.1,