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rs199475579

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Carrier of a phenylketonuria mutation
Make rs199475579(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position102852917
GenePAH
is asnp
is mentioned by
dbSNPrs199475579
ebirs199475579
HLIrs199475579
Exacrs199475579
Varsomers199475579
Maprs199475579
PheGenIrs199475579
hapmaprs199475579
1000 genomesrs199475579
hgdprs199475579
ensemblrs199475579
gopubmedrs199475579
geneviewrs199475579
scholarrs199475579
googlers199475579
pharmgkbrs199475579
gwascentralrs199475579
openSNPrs199475579
23andMers199475579
23andMe allrs199475579
SNP Nexus

SNPshotrs199475579
SNPdbers199475579
MSV3drs199475579
GWAS Ctlgrs199475579
Max Magnitude3
ClinVar
Risk rs199475579(A,T;A,T)
Alt rs199475579(A,T;A,T)
Reference rs199475579(G;G)
Significance Probable-Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103246695C>A; NC_000012.11:g.103246695C>T
CLNSRC
CLNACC RCV000089073.1, RCV000169396.1, RCV000089072.1,