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rs786200862

From SNPedia

Merged intors62516097
Orientationminus
Stabilizedminus
Geno Mag Summary
(TCTCCCCCTGGAGCT;TCTCCCCCTGGAGCT) 0 common in clinvar
Make rs786200862(-;-)
Make rs786200862(-;TCTCCCCCTGGAGCT)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position102843739
GenePAH
is asnp
is mentioned by
dbSNPrs786200862
dbSNP (classic)rs786200862
ClinGenrs786200862
ebirs786200862
HLIrs786200862
Exacrs786200862
Gnomadrs786200862
Varsomers786200862
LitVarrs786200862
Maprs786200862
PheGenIrs786200862
Biobankrs786200862
1000 genomesrs786200862
hgdprs786200862
ensemblrs786200862
geneviewrs786200862
scholarrs786200862
googlers786200862
pharmgkbrs786200862
gwascentralrs786200862
openSNPrs786200862
23andMers786200862
SNPshotrs786200862
SNPdbers786200862
MSV3drs786200862
GWAS Ctlgrs786200862
StatusMerged into rs62516097
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs786200862(TCTCCCCCTGGAGCT;TCTCCCCCTGGAGCT)
Significance Pathogenic
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103237517_103237531delAGCTCCAGGGGGAGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000000651.3, RCV000088753.1,