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rs62517167

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs62517167(C;C)
Make rs62517167(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position102894794
GenePAH
is asnp
is mentioned by
dbSNPrs62517167
ebirs62517167
HLIrs62517167
Exacrs62517167
Varsomers62517167
Maprs62517167
PheGenIrs62517167
hapmaprs62517167
1000 genomesrs62517167
hgdprs62517167
ensemblrs62517167
gopubmedrs62517167
geneviewrs62517167
scholarrs62517167
googlers62517167
pharmgkbrs62517167
gwascentralrs62517167
openSNPrs62517167
23andMers62517167
23andMe allrs62517167
SNP Nexus

SNPshotrs62517167
SNPdbers62517167
MSV3drs62517167
GWAS Ctlgrs62517167
Max Magnitude0
OMIM612349
Desc
Variant0053
Relatedalso


ClinVar
Risk rs62517167(C;C)
Alt rs62517167(C;C)
Reference rs62517167(T;T)
Significance Pathogenic
Disease Mild non-PKU hyperphenylalanemia not provided
Variation info
Gene PAH
CLNDBN Mild non-PKU hyperphenylalanemia not provided
Reversed 1
HGVS NC_000012.11:g.103288572A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000659.3, RCV000088892.1,