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rs62514938

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Carrier of a phenylketonuria mutation
Make rs62514938(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102852952
GenePAH
is asnp
is mentioned by
dbSNPrs62514938
dbSNP (classic)rs62514938
ClinGenrs62514938
ebirs62514938
HLIrs62514938
Exacrs62514938
Gnomadrs62514938
Varsomers62514938
LitVarrs62514938
Maprs62514938
PheGenIrs62514938
Biobankrs62514938
1000 genomesrs62514938
hgdprs62514938
ensemblrs62514938
geneviewrs62514938
scholarrs62514938
googlers62514938
pharmgkbrs62514938
gwascentralrs62514938
openSNPrs62514938
23andMers62514938
SNPshotrs62514938
SNPdbers62514938
MSV3drs62514938
GWAS Ctlgrs62514938
Max Magnitude3
ClinVar
Risk rs62514938(G;G)
Alt rs62514938(G;G)
Reference Rs62514938(A;A)
Significance Untested
Disease not provided
Variation info
Gene PAH
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.103246730T>C
CLNSRC
CLNACC RCV000089045.1,