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rs786200861

From SNPedia

Merged intors62516096
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;TCT) 3 Carrier of a phenylketonuria mutation
(TCT;TCT) 0 common in clinvar


Make rs786200861(-;-)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position102843751
GenePAH
is asnp
is mentioned by
dbSNPrs786200861
dbSNP (classic)rs786200861
ClinGenrs786200861
ebirs786200861
HLIrs786200861
Exacrs786200861
Gnomadrs786200861
Varsomers786200861
LitVarrs786200861
Maprs786200861
PheGenIrs786200861
Biobankrs786200861
1000 genomesrs786200861
hgdprs786200861
ensemblrs786200861
geneviewrs786200861
scholarrs786200861
googlers786200861
pharmgkbrs786200861
gwascentralrs786200861
openSNPrs786200861
23andMers786200861
SNPshotrs786200861
SNPdbers786200861
MSV3drs786200861
GWAS Ctlgrs786200861
StatusMerged into rs62516096
Max Magnitude3
ClinVar
Risk
Alt
Reference Rs786200861(TCT;TCT)
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,