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rs62642939

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs62642939(A;A)
Make rs62642939(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position102851709
GenePAH
is asnp
is mentioned by
dbSNPrs62642939
ebirs62642939
HLIrs62642939
Exacrs62642939
Varsomers62642939
Maprs62642939
PheGenIrs62642939
hapmaprs62642939
1000 genomesrs62642939
hgdprs62642939
ensemblrs62642939
gopubmedrs62642939
geneviewrs62642939
scholarrs62642939
googlers62642939
pharmgkbrs62642939
gwascentralrs62642939
openSNPrs62642939
23andMers62642939
23andMe allrs62642939
SNP Nexus

SNPshotrs62642939
SNPdbers62642939
MSV3drs62642939
GWAS Ctlgrs62642939
Max Magnitude0
ClinVar
Risk rs62642939(A;A)
Alt rs62642939(A;A)
Reference rs62642939(G;G)
Significance Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103245487C>T
CLNSRC HGMD
CLNACC RCV000078535.3, RCV000150085.3,