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rs281865444

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Carrier of a phenylketonuria mutation
Make rs281865444(A;A)
Make rs281865444(A;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position102855160
GenePAH
is asnp
is mentioned by
dbSNPrs281865444
ebirs281865444
HLIrs281865444
Exacrs281865444
Varsomers281865444
Maprs281865444
PheGenIrs281865444
hapmaprs281865444
1000 genomesrs281865444
hgdprs281865444
ensemblrs281865444
gopubmedrs281865444
geneviewrs281865444
scholarrs281865444
googlers281865444
pharmgkbrs281865444
gwascentralrs281865444
openSNPrs281865444
23andMers281865444
23andMe allrs281865444
SNP Nexus

SNPshotrs281865444
SNPdbers281865444
MSV3drs281865444
GWAS Ctlgrs281865444
Max Magnitude3
ClinVar
Risk rs281865444(A;A)
Alt rs281865444(A;A)
Reference rs281865444(G;G)
Significance Probable-Pathogenic
Disease Phenylketonuria
Variation info
Gene PAH
CLNDBN Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103248938C>T
CLNSRC ClinVar
CLNACC RCV000106365.1,