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rs62517200

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;T) 3 Carrier of a phenylketonuria mutation
Make rs62517200(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102844380
GenePAH
is asnp
is mentioned by
dbSNPrs62517200
dbSNP (classic)rs62517200
ClinGenrs62517200
ebirs62517200
HLIrs62517200
Exacrs62517200
Gnomadrs62517200
Varsomers62517200
LitVarrs62517200
Maprs62517200
PheGenIrs62517200
Biobankrs62517200
1000 genomesrs62517200
hgdprs62517200
ensemblrs62517200
geneviewrs62517200
scholarrs62517200
googlers62517200
pharmgkbrs62517200
gwascentralrs62517200
openSNPrs62517200
23andMers62517200
SNPshotrs62517200
SNPdbers62517200
MSV3drs62517200
GWAS Ctlgrs62517200
Max Magnitude3
ClinVar
Risk rs62517200(T;T)
Alt rs62517200(T;T)
Reference Rs62517200(A;A)
Significance Untested
Disease not provided
Variation info
Gene PAH
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.103238158T>A
CLNSRC
CLNACC RCV000088701.1,