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rs199475654

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a phenylketonuria mutation
Make rs199475654(T;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position102852816
GenePAH
is asnp
is mentioned by
dbSNPrs199475654
ebirs199475654
HLIrs199475654
Exacrs199475654
Varsomers199475654
Maprs199475654
PheGenIrs199475654
hapmaprs199475654
1000 genomesrs199475654
hgdprs199475654
ensemblrs199475654
gopubmedrs199475654
geneviewrs199475654
scholarrs199475654
googlers199475654
pharmgkbrs199475654
gwascentralrs199475654
openSNPrs199475654
23andMers199475654
23andMe allrs199475654
SNP Nexus

SNPshotrs199475654
SNPdbers199475654
MSV3drs199475654
GWAS Ctlgrs199475654
Max Magnitude3
ClinVar
Risk rs199475654(G,T;G,T)
Alt rs199475654(G,T;G,T)
Reference rs199475654(C;C)
Significance Probable-Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103246594G>A; NC_000012.11:g.103246594G>C
CLNSRC HGMD
CLNACC RCV000078533.5, RCV000106370.1,