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

rs199475644

From SNPedia

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


Make rs199475644(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position102852851
GenePAH
is asnp
is mentioned by
dbSNPrs199475644
dbSNP (classic)rs199475644
ClinGenrs199475644
ebirs199475644
HLIrs199475644
Exacrs199475644
Gnomadrs199475644
Varsomers199475644
LitVarrs199475644
Maprs199475644
PheGenIrs199475644
Biobankrs199475644
1000 genomesrs199475644
hgdprs199475644
ensemblrs199475644
geneviewrs199475644
scholarrs199475644
googlers199475644
pharmgkbrs199475644
gwascentralrs199475644
openSNPrs199475644
23andMers199475644
SNPshotrs199475644
SNPdbers199475644
MSV3drs199475644
GWAS Ctlgrs199475644
Max Magnitude0
ClinVar
Risk rs199475644(A;A)
Alt rs199475644(A;A)
Reference Rs199475644(T;T)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene PAH
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.103246629A>T
CLNSRC
CLNACC RCV000089102.2,