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rs62508696

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a phenylketonuria mutation
Make rs62508696(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102855166
GenePAH
is asnp
is mentioned by
dbSNPrs62508696
dbSNP (classic)rs62508696
ClinGenrs62508696
ebirs62508696
HLIrs62508696
Exacrs62508696
Gnomadrs62508696
Varsomers62508696
LitVarrs62508696
Maprs62508696
PheGenIrs62508696
Biobankrs62508696
1000 genomesrs62508696
hgdprs62508696
ensemblrs62508696
geneviewrs62508696
scholarrs62508696
googlers62508696
pharmgkbrs62508696
gwascentralrs62508696
openSNPrs62508696
23andMers62508696
SNPshotrs62508696
SNPdbers62508696
MSV3drs62508696
GWAS Ctlgrs62508696
Max Magnitude3
ClinVar
Risk rs62508696(T;T)
Alt rs62508696(T;T)
Reference Rs62508696(C;C)
Significance Untested
Disease not provided
Variation info
Gene PAH
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.103248944G>A
CLNSRC
CLNACC RCV000089033.1,