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rs199475674

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
({{{allele1}}};{{{allele2}}}) 0 common in clinvar
(-;G) 3 Carrier of a phenylketonuria mutation
Make rs199475674(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102912847
GenePAH
is asnp
is mentioned by
dbSNPrs199475674
dbSNP (classic)rs199475674
ClinGenrs199475674
ebirs199475674
HLIrs199475674
Exacrs199475674
Gnomadrs199475674
Varsomers199475674
LitVarrs199475674
Maprs199475674
PheGenIrs199475674
Biobankrs199475674
1000 genomesrs199475674
hgdprs199475674
ensemblrs199475674
geneviewrs199475674
scholarrs199475674
googlers199475674
pharmgkbrs199475674
gwascentralrs199475674
openSNPrs199475674
23andMers199475674
SNPshotrs199475674
SNPdbers199475674
MSV3drs199475674
GWAS Ctlgrs199475674
Max Magnitude3
ClinVar
Risk rs199475674(G;G)
Alt rs199475674(G;G)
Reference Rs199475674(-;-)
Significance Untested
Disease not provided
Variation info
Gene PAH
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.103306626dupC
CLNSRC
CLNACC RCV000088764.1,