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rs199475578

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199475578(C;T)
Make rs199475578(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position102852933
GenePAH
is asnp
is mentioned by
dbSNPrs199475578
dbSNP (old)rs199475578
ClinGenrs199475578
ebirs199475578
HLIrs199475578
Exacrs199475578
Gnomadrs199475578
Varsomers199475578
LitVarrs199475578
Maprs199475578
PheGenIrs199475578
Biobankrs199475578
1000 genomesrs199475578
hgdprs199475578
ensemblrs199475578
gopubmedrs199475578
geneviewrs199475578
scholarrs199475578
googlers199475578
pharmgkbrs199475578
gwascentralrs199475578
openSNPrs199475578
23andMers199475578
23andMe allrs199475578
SNPshotrs199475578
SNPdbers199475578
MSV3drs199475578
GWAS Ctlgrs199475578
Max Magnitude0
ClinVar
Risk rs199475578(T;T)
Alt rs199475578(T;T)
Reference Rs199475578(C;C)
Significance Probable-Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103246711G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000089058.1, RCV000411222.1,