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rs62507322

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 3 Carrier of a phenylketonuria mutation
(G;G) 0 common in clinvar


Make rs62507322(A;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position102840516
GenePAH
is asnp
is mentioned by
dbSNPrs62507322
ebirs62507322
HLIrs62507322
Exacrs62507322
Varsomers62507322
Maprs62507322
PheGenIrs62507322
hapmaprs62507322
1000 genomesrs62507322
hgdprs62507322
ensemblrs62507322
gopubmedrs62507322
geneviewrs62507322
scholarrs62507322
googlers62507322
pharmgkbrs62507322
gwascentralrs62507322
openSNPrs62507322
23andMers62507322
23andMe allrs62507322
SNP Nexus

SNPshotrs62507322
SNPdbers62507322
MSV3drs62507322
GWAS Ctlgrs62507322
Max Magnitude3
ClinVar
Risk rs62507322(A;A)
Alt rs62507322(A;A)
Reference rs62507322(G;G)
Significance Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103234294C>T
CLNSRC HGMD
CLNACC RCV000078505.3, RCV000150076.3,