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rs62508687

From SNPedia

Orientationminus
Geno Mag Summary
(-;T) 3 Carrier of a phenylketonuria mutation
(T;T) 0 common in clinvar


Make rs62508687(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position102852851
GenePAH
is asnp
is mentioned by
dbSNPrs62508687
ebirs62508687
HLIrs62508687
Exacrs62508687
Varsomers62508687
Maprs62508687
PheGenIrs62508687
hapmaprs62508687
1000 genomesrs62508687
hgdprs62508687
ensemblrs62508687
gopubmedrs62508687
geneviewrs62508687
scholarrs62508687
googlers62508687
pharmgkbrs62508687
gwascentralrs62508687
openSNPrs62508687
23andMers62508687
23andMe allrs62508687
SNP Nexus

SNPshotrs62508687
SNPdbers62508687
MSV3drs62508687
GWAS Ctlgrs62508687
Max Magnitude3
ClinVar
Risk rs62508687(;)
Alt rs62508687(;)
Reference rs62508687(T;T)
Significance Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103246629delA
CLNSRC HGMD
CLNACC RCV000089103.1, RCV000153633.3,