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rs62517201

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;C) 3 Carrier of a phenylketonuria mutation
(C;C) 0 common in clinvar
(C;G) 3 Carrier of a phenylketonuria mutation
Make rs62517201(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102855224
GenePAH
is asnp
is mentioned by
dbSNPrs62517201
dbSNP (classic)rs62517201
ClinGenrs62517201
ebirs62517201
HLIrs62517201
Exacrs62517201
Gnomadrs62517201
Varsomers62517201
LitVarrs62517201
Maprs62517201
PheGenIrs62517201
Biobankrs62517201
1000 genomesrs62517201
hgdprs62517201
ensemblrs62517201
geneviewrs62517201
scholarrs62517201
googlers62517201
pharmgkbrs62517201
gwascentralrs62517201
openSNPrs62517201
23andMers62517201
SNPshotrs62517201
SNPdbers62517201
MSV3drs62517201
GWAS Ctlgrs62517201
Max Magnitude3
ClinVar
Risk rs62517201(A;A) rs62517201(G;G)
Alt rs62517201(A;A) rs62517201(G;G)
Reference Rs62517201(C;C)
Significance Untested
Disease not provided
Variation info
Gene PAH
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.103249002G>C
CLNSRC
CLNACC RCV000089013.1,