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rs778154939

From SNPedia

Orientationplus
Geno Mag Summary
(C;T) 3 Carrier of a phenylketonuria mutation
(T;T) 0 common in clinvar
Make rs778154939(A;A)
Make rs778154939(A;T)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102852857
GenePAH
is asnp
is mentioned by
dbSNPrs778154939
ebirs778154939
HLIrs778154939
Exacrs778154939
Varsomers778154939
Maprs778154939
PheGenIrs778154939
hapmaprs778154939
1000 genomesrs778154939
hgdprs778154939
ensemblrs778154939
gopubmedrs778154939
geneviewrs778154939
scholarrs778154939
googlers778154939
pharmgkbrs778154939
gwascentralrs778154939
openSNPrs778154939
23andMers778154939
23andMe allrs778154939
SNP Nexus

SNPshotrs778154939
SNPdbers778154939
MSV3drs778154939
GWAS Ctlgrs778154939
Max Magnitude3
ClinVar
Risk rs778154939(A;A)
Alt rs778154939(A;A)
Reference rs778154939(T;T)
Significance Probable-Pathogenic
Disease Phenylketonuria
Variation info
Gene PAH
CLNDBN Phenylketonuria
Reversed 0
HGVS NC_000012.11:g.103246635T>A
CLNSRC
CLNACC RCV000210763.1,