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rs199475598

From SNPedia

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


Make rs199475598(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position102912794
GenePAH
is asnp
is mentioned by
dbSNPrs199475598
ebirs199475598
HLIrs199475598
Exacrs199475598
Varsomers199475598
Maprs199475598
PheGenIrs199475598
hapmaprs199475598
1000 genomesrs199475598
hgdprs199475598
ensemblrs199475598
gopubmedrs199475598
geneviewrs199475598
scholarrs199475598
googlers199475598
pharmgkbrs199475598
gwascentralrs199475598
openSNPrs199475598
23andMers199475598
23andMe allrs199475598
SNP Nexus

SNPshotrs199475598
SNPdbers199475598
MSV3drs199475598
GWAS Ctlgrs199475598
Max Magnitude3
ClinVar
Risk rs199475598(G;G)
Alt rs199475598(G;G)
Reference rs199475598(T;T)
Significance Other
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103306572A>C
CLNSRC HGMD
CLNACC RCV000078512.4, RCV000150092.5,