Have questions? Visit https://www.reddit.com/r/SNPedia

rs62508752

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs62508752(A;G)
Make rs62508752(G;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position102852861
GenePAH
is asnp
is mentioned by
dbSNPrs62508752
ebirs62508752
HLIrs62508752
Exacrs62508752
Varsomers62508752
Maprs62508752
PheGenIrs62508752
hapmaprs62508752
1000 genomesrs62508752
hgdprs62508752
ensemblrs62508752
gopubmedrs62508752
geneviewrs62508752
scholarrs62508752
googlers62508752
pharmgkbrs62508752
gwascentralrs62508752
openSNPrs62508752
23andMers62508752
23andMe allrs62508752
SNP Nexus

SNPshotrs62508752
SNPdbers62508752
MSV3drs62508752
GWAS Ctlgrs62508752
Max Magnitude0
ClinVar
Risk rs62508752(C,G;C,G)
Alt rs62508752(C,G;C,G)
Reference rs62508752(A;A)
Significance Probable-Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103246639T>C; NC_000012.11:g.103246639T>G
CLNSRC ClinVar DeBelle Laboratory for Biochemical Genetics
CLNACC RCV000089096.1, RCV000106367.1,