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rs199475618

From SNPedia

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


Make rs199475618(-;-)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102846895
GenePAH
is asnp
is mentioned by
dbSNPrs199475618
dbSNP (classic)rs199475618
ClinGenrs199475618
ebirs199475618
HLIrs199475618
Exacrs199475618
Gnomadrs199475618
Varsomers199475618
LitVarrs199475618
Maprs199475618
PheGenIrs199475618
Biobankrs199475618
1000 genomesrs199475618
hgdprs199475618
ensemblrs199475618
geneviewrs199475618
scholarrs199475618
googlers199475618
pharmgkbrs199475618
gwascentralrs199475618
openSNPrs199475618
23andMers199475618
SNPshotrs199475618
SNPdbers199475618
MSV3drs199475618
GWAS Ctlgrs199475618
Max Magnitude3
ClinVar
Risk rs199475618(-;-)
Alt rs199475618(-;-)
Reference Rs199475618(ACA;ACA)
Significance Untested
Disease not provided
Variation info
Gene PAH
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.103240673_103240675delTGT
CLNSRC
CLNACC RCV000089178.1,