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rs62507348

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a phenylketonuria mutation
Make rs62507348(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position102855148
GenePAH
is asnp
is mentioned by
dbSNPrs62507348
ebirs62507348
HLIrs62507348
Exacrs62507348
Varsomers62507348
Maprs62507348
PheGenIrs62507348
hapmaprs62507348
1000 genomesrs62507348
hgdprs62507348
ensemblrs62507348
gopubmedrs62507348
geneviewrs62507348
scholarrs62507348
googlers62507348
pharmgkbrs62507348
gwascentralrs62507348
openSNPrs62507348
23andMers62507348
23andMe allrs62507348
SNP Nexus

SNPshotrs62507348
SNPdbers62507348
MSV3drs62507348
GWAS Ctlgrs62507348
Max Magnitude3
ClinVar
Risk rs62507348(T;T)
Alt rs62507348(T;T)
Reference rs62507348(C;C)
Significance Probable-Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103248926G>A
CLNSRC
CLNACC RCV000089039.1, RCV000169464.1,