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rs281865428

From SNPedia

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


Make rs281865428(-;-)
ReferenceGRCh38 38.1/142
Chromosome12
Position102894737
GenePAH
is asnp
is mentioned by
dbSNPrs281865428
ebirs281865428
HLIrs281865428
Exacrs281865428
Varsomers281865428
Maprs281865428
PheGenIrs281865428
hapmaprs281865428
1000 genomesrs281865428
hgdprs281865428
ensemblrs281865428
gopubmedrs281865428
geneviewrs281865428
scholarrs281865428
googlers281865428
pharmgkbrs281865428
gwascentralrs281865428
openSNPrs281865428
23andMers281865428
23andMe allrs281865428
SNP Nexus

SNPshotrs281865428
SNPdbers281865428
MSV3drs281865428
GWAS Ctlgrs281865428
Max Magnitude3
ClinVar
Risk rs281865428(;)
Alt rs281865428(;)
Reference rs281865428(C;C)
Significance Probable-Pathogenic
Disease Phenylketonuria
Variation info
Gene PAH
CLNDBN Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103288515delG
CLNSRC ClinVar
CLNACC RCV000106355.1,