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rs199475582

From SNPedia

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


Make rs199475582(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102851755
GenePAH
is asnp
is mentioned by
dbSNPrs199475582
dbSNP (classic)rs199475582
ClinGenrs199475582
ebirs199475582
HLIrs199475582
Exacrs199475582
Gnomadrs199475582
Varsomers199475582
LitVarrs199475582
Maprs199475582
PheGenIrs199475582
Biobankrs199475582
1000 genomesrs199475582
hgdprs199475582
ensemblrs199475582
geneviewrs199475582
scholarrs199475582
googlers199475582
pharmgkbrs199475582
gwascentralrs199475582
openSNPrs199475582
23andMers199475582
SNPshotrs199475582
SNPdbers199475582
MSV3drs199475582
GWAS Ctlgrs199475582
Max Magnitude3
ClinVar
Risk rs199475582(A;A)
Alt rs199475582(A;A)
Reference Rs199475582(G;G)
Significance Probable-Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103245533C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000089135.1, RCV000411380.1,