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rs199475590

From SNPedia

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


Make rs199475590(-;-)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102843647
GenePAH
is asnp
is mentioned by
dbSNPrs199475590
dbSNP (classic)rs199475590
ClinGenrs199475590
ebirs199475590
HLIrs199475590
Exacrs199475590
Gnomadrs199475590
Varsomers199475590
LitVarrs199475590
Maprs199475590
PheGenIrs199475590
Biobankrs199475590
1000 genomesrs199475590
hgdprs199475590
ensemblrs199475590
geneviewrs199475590
scholarrs199475590
googlers199475590
pharmgkbrs199475590
gwascentralrs199475590
openSNPrs199475590
23andMers199475590
SNPshotrs199475590
SNPdbers199475590
MSV3drs199475590
GWAS Ctlgrs199475590
Max Magnitude3
ClinVar
Risk rs199475590(-;-)
Alt rs199475590(-;-)
Reference Rs199475590(A;A)
Significance Untested
Disease not provided
Variation info
Gene PAH
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.103237425delT
CLNSRC
CLNACC RCV000088788.1,