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rs62642941

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 6 Phenylketonuria
(-;T) 3 Carrier of a phenylketonuria mutation
(T;T) 0 common in clinvar
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position102843716
GenePAH
is asnp
is mentioned by
dbSNPrs62642941
ebirs62642941
HLIrs62642941
Exacrs62642941
Varsomers62642941
Maprs62642941
PheGenIrs62642941
hapmaprs62642941
1000 genomesrs62642941
hgdprs62642941
ensemblrs62642941
gopubmedrs62642941
geneviewrs62642941
scholarrs62642941
googlers62642941
pharmgkbrs62642941
gwascentralrs62642941
openSNPrs62642941
23andMers62642941
23andMe allrs62642941
SNP Nexus

SNPshotrs62642941
SNPdbers62642941
MSV3drs62642941
GWAS Ctlgrs62642941
Max Magnitude6
ClinVar
Risk rs62642941(;)
Alt rs62642941(;)
Reference rs62642941(T;T)
Significance Pathogenic
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103237494delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000000666.4, RCV000088766.1,