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rs281865456

From SNPedia

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


Make rs281865456(-;-)
ReferenceGRCh38 38.1/142
Chromosome12
Position102846948
GenePAH
is asnp
is mentioned by
dbSNPrs281865456
ebirs281865456
HLIrs281865456
Exacrs281865456
Varsomers281865456
Maprs281865456
PheGenIrs281865456
hapmaprs281865456
1000 genomesrs281865456
hgdprs281865456
ensemblrs281865456
gopubmedrs281865456
geneviewrs281865456
scholarrs281865456
googlers281865456
pharmgkbrs281865456
gwascentralrs281865456
openSNPrs281865456
23andMers281865456
23andMe allrs281865456
SNP Nexus

SNPshotrs281865456
SNPdbers281865456
MSV3drs281865456
GWAS Ctlgrs281865456
Max Magnitude3
ClinVar
Risk rs281865456(;)
Alt rs281865456(;)
Reference rs281865456(A;A)
Significance Probable-Pathogenic
Disease Phenylketonuria
Variation info
Gene PAH
CLNDBN Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103240726delT
CLNSRC ClinVar
CLNACC RCV000106377.1,