Have questions? Visit https://www.reddit.com/r/SNPedia

rs281865430

From SNPedia

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


Make rs281865430(-;-)
ReferenceGRCh38 38.1/142
Chromosome12
Position102846932
GenePAH
is asnp
is mentioned by
dbSNPrs281865430
ebirs281865430
HLIrs281865430
Exacrs281865430
Varsomers281865430
Maprs281865430
PheGenIrs281865430
hapmaprs281865430
1000 genomesrs281865430
hgdprs281865430
ensemblrs281865430
gopubmedrs281865430
geneviewrs281865430
scholarrs281865430
googlers281865430
pharmgkbrs281865430
gwascentralrs281865430
openSNPrs281865430
23andMers281865430
23andMe allrs281865430
SNP Nexus

SNPshotrs281865430
SNPdbers281865430
MSV3drs281865430
GWAS Ctlgrs281865430
Max Magnitude3
ClinVar
Risk rs281865430(;)
Alt rs281865430(;)
Reference rs281865430(CT;CT)
Significance Probable-Pathogenic
Disease Phenylketonuria
Variation info
Gene PAH
CLNDBN Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103240710_103240711delAG
CLNSRC ClinVar
CLNACC RCV000106378.1,