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rs199475575

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a phenylketonuria mutation
Make rs199475575(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position102855316
GenePAH
is asnp
is mentioned by
dbSNPrs199475575
ebirs199475575
HLIrs199475575
Exacrs199475575
Varsomers199475575
Maprs199475575
PheGenIrs199475575
hapmaprs199475575
1000 genomesrs199475575
hgdprs199475575
ensemblrs199475575
gopubmedrs199475575
geneviewrs199475575
scholarrs199475575
googlers199475575
pharmgkbrs199475575
gwascentralrs199475575
openSNPrs199475575
23andMers199475575
23andMe allrs199475575
SNP Nexus

SNPshotrs199475575
SNPdbers199475575
MSV3drs199475575
GWAS Ctlgrs199475575
Max Magnitude3
ClinVar
Risk rs199475575(T;T)
Alt rs199475575(T;T)
Reference rs199475575(C;C)
Significance Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103249094G>A
CLNSRC
CLNACC RCV000088971.2, RCV000179282.1,