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rs62516096

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;TCT) 3 Carrier of a phenylketonuria mutation
(CTT;CTT) 0 common in clinvar
(TCT;TCT) 0 common in clinvar
Make rs62516096(-;-)
Make rs62516096(-;CTT)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102843753
GenePAH
is asnp
is mentioned by
dbSNPrs62516096
dbSNP (classic)rs62516096
ClinGenrs62516096
ebirs62516096
HLIrs62516096
Exacrs62516096
Gnomadrs62516096
Varsomers62516096
LitVarrs62516096
Maprs62516096
PheGenIrs62516096
Biobankrs62516096
1000 genomesrs62516096
hgdprs62516096
ensemblrs62516096
geneviewrs62516096
scholarrs62516096
googlers62516096
pharmgkbrs62516096
gwascentralrs62516096
openSNPrs62516096
23andMers62516096
SNPshotrs62516096
SNPdbers62516096
MSV3drs62516096
GWAS Ctlgrs62516096
Merged fromRs786200861
Max Magnitude3
ClinVar
Risk Rs62516096(TCT;TCT) rs62516096(-;-)
Alt Rs62516096(TCT;TCT) rs62516096(-;-)
Reference Rs62516096(CTT;CTT)
Significance Pathogenic
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103237529_103237531delAGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000000628.4, RCV000088752.1,