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rs199475676

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 Carrier of a phenylketonuria mutation
(C;T) 3 Carrier of a phenylketonuria mutation
Make rs199475676(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102852858
GenePAH
is asnp
is mentioned by
dbSNPrs199475676
dbSNP (classic)rs199475676
ClinGenrs199475676
ebirs199475676
HLIrs199475676
Exacrs199475676
Gnomadrs199475676
Varsomers199475676
LitVarrs199475676
Maprs199475676
PheGenIrs199475676
Biobankrs199475676
1000 genomesrs199475676
hgdprs199475676
ensemblrs199475676
geneviewrs199475676
scholarrs199475676
googlers199475676
pharmgkbrs199475676
gwascentralrs199475676
openSNPrs199475676
23andMers199475676
SNPshotrs199475676
SNPdbers199475676
MSV3drs199475676
GWAS Ctlgrs199475676
Max Magnitude3
ClinVar
Risk rs199475676(G;G)
Alt rs199475676(G;G)
Reference Rs199475676(C;C)
Significance Untested
Disease not provided
Variation info
Gene PAH
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.103246636G>C
CLNSRC
CLNACC RCV000089098.1,