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rs62642919

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs62642919(A;G)
Make rs62642919(G;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position102851730
GenePAH
is asnp
is mentioned by
dbSNPrs62642919
ebirs62642919
HLIrs62642919
Exacrs62642919
Varsomers62642919
Maprs62642919
PheGenIrs62642919
hapmaprs62642919
1000 genomesrs62642919
hgdprs62642919
ensemblrs62642919
gopubmedrs62642919
geneviewrs62642919
scholarrs62642919
googlers62642919
pharmgkbrs62642919
gwascentralrs62642919
openSNPrs62642919
23andMers62642919
23andMe allrs62642919
SNP Nexus

SNPshotrs62642919
SNPdbers62642919
MSV3drs62642919
GWAS Ctlgrs62642919
Max Magnitude0
ClinVar
Risk rs62642919(G,T;G,T)
Alt rs62642919(G,T;G,T)
Reference rs62642919(A;A)
Significance Probable-Pathogenic
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103245508T>A; NC_000012.11:g.103245508T>C
CLNSRC ClinVar DeBelle Laboratory for Biochemical Genetics
CLNACC RCV000106371.1, RCV000089144.1,