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rs199475670

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;T) 3 Carrier of a phenylketonuria mutation
Make rs199475670(C;C)
Make rs199475670(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102840444
GenePAH
is asnp
is mentioned by
dbSNPrs199475670
dbSNP (classic)rs199475670
ClinGenrs199475670
ebirs199475670
HLIrs199475670
Exacrs199475670
Gnomadrs199475670
Varsomers199475670
LitVarrs199475670
Maprs199475670
PheGenIrs199475670
Biobankrs199475670
1000 genomesrs199475670
hgdprs199475670
ensemblrs199475670
geneviewrs199475670
scholarrs199475670
googlers199475670
pharmgkbrs199475670
gwascentralrs199475670
openSNPrs199475670
23andMers199475670
SNPshotrs199475670
SNPdbers199475670
MSV3drs199475670
GWAS Ctlgrs199475670
Max Magnitude3
ClinVar
Risk rs199475670(C;C)
Alt rs199475670(C;C)
Reference Rs199475670(T;T)
Significance Untested
Disease not provided
Variation info
Gene PAH
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.103234222A>G
CLNSRC
CLNACC RCV000088822.1,