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rs62642906

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;CT) 3 Carrier of a phenylketonuria mutation
Make rs62642906(-;-)
Make rs62642906(CT;CT)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102917083
GenePAH
is asnp
is mentioned by
dbSNPrs62642906
dbSNP (classic)rs62642906
ClinGenrs62642906
ebirs62642906
HLIrs62642906
Exacrs62642906
Gnomadrs62642906
Varsomers62642906
LitVarrs62642906
Maprs62642906
PheGenIrs62642906
Biobankrs62642906
1000 genomesrs62642906
hgdprs62642906
ensemblrs62642906
geneviewrs62642906
scholarrs62642906
googlers62642906
pharmgkbrs62642906
gwascentralrs62642906
openSNPrs62642906
23andMers62642906
SNPshotrs62642906
SNPdbers62642906
MSV3drs62642906
GWAS Ctlgrs62642906
Max Magnitude3
ClinVar
Risk rs62642906(-;-)
Alt rs62642906(-;-)
Reference rs62642906(CT;CT)
Significance Other
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103310861_103310862delAG
CLNSRC HGMD
CLNACC RCV000088944.1, RCV000153638.5,