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rs199475587

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T) 3 Carrier of a phenylketonuria mutation
(T;T) 0 common in clinvar
Make rs199475587(A;A)
Make rs199475587(A;T)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102866645
GenePAH
is asnp
is mentioned by
dbSNPrs199475587
dbSNP (classic)rs199475587
ClinGenrs199475587
ebirs199475587
HLIrs199475587
Exacrs199475587
Gnomadrs199475587
Varsomers199475587
LitVarrs199475587
Maprs199475587
PheGenIrs199475587
Biobankrs199475587
1000 genomesrs199475587
hgdprs199475587
ensemblrs199475587
geneviewrs199475587
scholarrs199475587
googlers199475587
pharmgkbrs199475587
gwascentralrs199475587
openSNPrs199475587
23andMers199475587
SNPshotrs199475587
SNPdbers199475587
MSV3drs199475587
GWAS Ctlgrs199475587
Max Magnitude3
ClinVar
Risk rs199475587(A;A) rs199475587(C;C)
Alt rs199475587(A;A) rs199475587(C;C)
Reference Rs199475587(T;T)
Significance Untested
Disease not provided
Variation info
Gene PAH
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.103260423A>G; NC_000012.11:g.103260423A>T
CLNSRC UniProtKB (protein)
CLNACC RCV000088933.1, RCV000088932.1,