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rs1799970

From SNPedia

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


Make rs1799970(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position102840398
GenePAH
is asnp
is mentioned by
dbSNPrs1799970
ebirs1799970
HLIrs1799970
Exacrs1799970
Varsomers1799970
Maprs1799970
PheGenIrs1799970
hapmaprs1799970
1000 genomesrs1799970
hgdprs1799970
ensemblrs1799970
gopubmedrs1799970
geneviewrs1799970
scholarrs1799970
googlers1799970
pharmgkbrs1799970
gwascentralrs1799970
openSNPrs1799970
23andMers1799970
23andMe allrs1799970
SNP Nexus

SNPshotrs1799970
SNPdbers1799970
MSV3drs1799970
GWAS Ctlgrs1799970
Max Magnitude3
ClinVar
Risk rs1799970(C;C)
Alt rs1799970(C;C)
Reference rs1799970(T;T)
Significance Probable-Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103234176A>G
CLNSRC
CLNACC RCV000088827.1, RCV000169029.1,