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rs62508572

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Carrier of a phenylketonuria mutation
Make rs62508572(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102855223
GenePAH
is asnp
is mentioned by
dbSNPrs62508572
dbSNP (classic)rs62508572
ClinGenrs62508572
ebirs62508572
HLIrs62508572
Exacrs62508572
Gnomadrs62508572
Varsomers62508572
LitVarrs62508572
Maprs62508572
PheGenIrs62508572
Biobankrs62508572
1000 genomesrs62508572
hgdprs62508572
ensemblrs62508572
geneviewrs62508572
scholarrs62508572
googlers62508572
pharmgkbrs62508572
gwascentralrs62508572
openSNPrs62508572
23andMers62508572
SNPshotrs62508572
SNPdbers62508572
MSV3drs62508572
GWAS Ctlgrs62508572
Max Magnitude3
ClinVar
Risk rs62508572(G;G)
Alt rs62508572(G;G)
Reference Rs62508572(A;A)
Significance Untested
Disease not provided
Variation info
Gene PAH
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.103249001T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000089014.1,