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rs199475633

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a phenylketonuria mutation
Make rs199475633(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102844338
GenePAH
is asnp
is mentioned by
dbSNPrs199475633
dbSNP (classic)rs199475633
ClinGenrs199475633
ebirs199475633
HLIrs199475633
Exacrs199475633
Gnomadrs199475633
Varsomers199475633
LitVarrs199475633
Maprs199475633
PheGenIrs199475633
Biobankrs199475633
1000 genomesrs199475633
hgdprs199475633
ensemblrs199475633
geneviewrs199475633
scholarrs199475633
googlers199475633
pharmgkbrs199475633
gwascentralrs199475633
openSNPrs199475633
23andMers199475633
SNPshotrs199475633
SNPdbers199475633
MSV3drs199475633
GWAS Ctlgrs199475633
Max Magnitude3
ClinVar
Risk rs199475633(T;T)
Alt rs199475633(T;T)
Reference Rs199475633(C;C)
Significance Untested
Disease not provided
Variation info
Gene PAH
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.103238116G>A
CLNSRC
CLNACC RCV000088731.1,