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rs281865433

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs281865433(GA;TT)
Make rs281865433(TT;TT)
ReferenceGRCh38 38.1/142
Chromosome12
Position102855294
GenePAH
is asnp
is mentioned by
dbSNPrs281865433
ebirs281865433
HLIrs281865433
Exacrs281865433
Varsomers281865433
Maprs281865433
PheGenIrs281865433
hapmaprs281865433
1000 genomesrs281865433
hgdprs281865433
ensemblrs281865433
gopubmedrs281865433
geneviewrs281865433
scholarrs281865433
googlers281865433
pharmgkbrs281865433
gwascentralrs281865433
openSNPrs281865433
23andMers281865433
23andMe allrs281865433
SNP Nexus

SNPshotrs281865433
SNPdbers281865433
MSV3drs281865433
GWAS Ctlgrs281865433
Max Magnitude0
ClinVar
Risk rs281865433(TT;TT)
Alt rs281865433(TT;TT)
Reference rs281865433(GA;GA)
Significance Probable-Pathogenic
Disease Phenylketonuria
Variation info
Gene PAH
CLNDBN Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103249072_103249073delTCinsAA
CLNSRC ClinVar
CLNACC RCV000106359.1,