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rs869312996

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869312996(C;C)
Make rs869312996(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102912849
GenePAH
is asnp
is mentioned by
dbSNPrs869312996
ebirs869312996
HLIrs869312996
Exacrs869312996
Varsomers869312996
Maprs869312996
PheGenIrs869312996
hapmaprs869312996
1000 genomesrs869312996
hgdprs869312996
ensemblrs869312996
gopubmedrs869312996
geneviewrs869312996
scholarrs869312996
googlers869312996
pharmgkbrs869312996
gwascentralrs869312996
openSNPrs869312996
23andMers869312996
23andMe allrs869312996
SNP Nexus

SNPshotrs869312996
SNPdbers869312996
MSV3drs869312996
GWAS Ctlgrs869312996
Max Magnitude0
ClinVar
Risk rs869312996(C;C)
Alt rs869312996(C;C)
Reference rs869312996(T;T)
Significance Probable-Pathogenic
Disease Phenylketonuria
Variation info
Gene PAH
CLNDBN Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103306627A>G
CLNSRC
CLNACC RCV000210792.1,