Have questions? Visit https://www.reddit.com/r/SNPedia

rs199475692

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199475692(A;G)
Make rs199475692(G;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position102852845
GenePAH
is asnp
is mentioned by
dbSNPrs199475692
ebirs199475692
HLIrs199475692
Exacrs199475692
Varsomers199475692
Maprs199475692
PheGenIrs199475692
hapmaprs199475692
1000 genomesrs199475692
hgdprs199475692
ensemblrs199475692
gopubmedrs199475692
geneviewrs199475692
scholarrs199475692
googlers199475692
pharmgkbrs199475692
gwascentralrs199475692
openSNPrs199475692
23andMers199475692
23andMe allrs199475692
SNP Nexus

SNPshotrs199475692
SNPdbers199475692
MSV3drs199475692
GWAS Ctlgrs199475692
Max Magnitude0
ClinVar
Risk rs199475692(G,T;G,T)
Alt rs199475692(G,T;G,T)
Reference rs199475692(A;A)
Significance Pathogenic
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103246623T>A; NC_000012.11:g.103246623T>C
CLNSRC ClinVar DeBelle Laboratory for Biochemical Genetics
CLNACC RCV000106368.1, RCV000089109.2,