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rs62507329

From SNPedia

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


Make rs62507329(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102843761
GenePAH
is asnp
is mentioned by
dbSNPrs62507329
dbSNP (classic)rs62507329
ClinGenrs62507329
ebirs62507329
HLIrs62507329
Exacrs62507329
Gnomadrs62507329
Varsomers62507329
LitVarrs62507329
Maprs62507329
PheGenIrs62507329
Biobankrs62507329
1000 genomesrs62507329
hgdprs62507329
ensemblrs62507329
geneviewrs62507329
scholarrs62507329
googlers62507329
pharmgkbrs62507329
gwascentralrs62507329
openSNPrs62507329
23andMers62507329
SNPshotrs62507329
SNPdbers62507329
MSV3drs62507329
GWAS Ctlgrs62507329
Max Magnitude3
ClinVar
Risk rs62507329(A;A) rs62507329(T;T)
Alt rs62507329(A;A) rs62507329(T;T)
Reference Rs62507329(C;C)
Significance Untested
Disease not provided
Variation info
Gene PAH
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.103237539G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000088748.1,