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rs62517202

From SNPedia

Merged intors62506950
Orientationminus
Stabilizedminus
Geno Mag Summary
({{{allele1}}};{{{allele2}}}) 0 common in clinvar
(-;G) 3 Carrier of a phenylketonuria mutation
Make rs62517202(-;C)
Make rs62517202(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102894820
GenePAH
is asnp
is mentioned by
dbSNPrs62517202
dbSNP (classic)rs62517202
ClinGenrs62517202
ebirs62517202
HLIrs62517202
Exacrs62517202
Gnomadrs62517202
Varsomers62517202
LitVarrs62517202
Maprs62517202
PheGenIrs62517202
Biobankrs62517202
1000 genomesrs62517202
hgdprs62517202
ensemblrs62517202
geneviewrs62517202
scholarrs62517202
googlers62517202
pharmgkbrs62517202
gwascentralrs62517202
openSNPrs62517202
23andMers62517202
SNPshotrs62517202
SNPdbers62517202
MSV3drs62517202
GWAS Ctlgrs62517202
StatusMerged into rs62506950
Max Magnitude3
ClinVar
Risk rs62517202(C;C)
Alt rs62517202(C;C)
Reference Rs62517202(;)
Significance Untested
Disease not provided
Variation info
Gene PAH
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.103288599dupG
CLNSRC
CLNACC RCV000088887.2,