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rs199475585

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a phenylketonuria mutation
Make rs199475585(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position102917073
GenePAH
is asnp
is mentioned by
dbSNPrs199475585
ebirs199475585
HLIrs199475585
Exacrs199475585
Varsomers199475585
Maprs199475585
PheGenIrs199475585
hapmaprs199475585
1000 genomesrs199475585
hgdprs199475585
ensemblrs199475585
gopubmedrs199475585
geneviewrs199475585
scholarrs199475585
googlers199475585
pharmgkbrs199475585
gwascentralrs199475585
openSNPrs199475585
23andMers199475585
23andMe allrs199475585
SNP Nexus

SNPshotrs199475585
SNPdbers199475585
MSV3drs199475585
GWAS Ctlgrs199475585
Max Magnitude3
ClinVar
Risk rs199475585(T;T)
Alt rs199475585(T;T)
Reference rs199475585(C;C)
Significance Probable-Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103310851G>A
CLNSRC
CLNACC RCV000088993.1, RCV000169450.1,