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rs199475667

From SNPedia

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


Make rs199475667(-;-)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102843757
GenePAH
is asnp
is mentioned by
dbSNPrs199475667
dbSNP (classic)rs199475667
ClinGenrs199475667
ebirs199475667
HLIrs199475667
Exacrs199475667
Gnomadrs199475667
Varsomers199475667
LitVarrs199475667
Maprs199475667
PheGenIrs199475667
Biobankrs199475667
1000 genomesrs199475667
hgdprs199475667
ensemblrs199475667
geneviewrs199475667
scholarrs199475667
googlers199475667
pharmgkbrs199475667
gwascentralrs199475667
openSNPrs199475667
23andMers199475667
SNPshotrs199475667
SNPdbers199475667
MSV3drs199475667
GWAS Ctlgrs199475667
Max Magnitude3
ClinVar
Risk rs199475667(-;-)
Alt rs199475667(-;-)
Reference Rs199475667(AA;AA)
Significance Untested
Disease not provided
Variation info
Gene PAH
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.103237535_103237536delTT
CLNSRC
CLNACC RCV000088749.1,