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rs199475653

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
({{{allele1}}};{{{allele2}}}) 0 common in clinvar
(-;T) 3 Carrier of a phenylketonuria mutation
Make rs199475653(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102852817
GenePAH
is asnp
is mentioned by
dbSNPrs199475653
dbSNP (classic)rs199475653
ClinGenrs199475653
ebirs199475653
HLIrs199475653
Exacrs199475653
Gnomadrs199475653
Varsomers199475653
LitVarrs199475653
Maprs199475653
PheGenIrs199475653
Biobankrs199475653
1000 genomesrs199475653
hgdprs199475653
ensemblrs199475653
geneviewrs199475653
scholarrs199475653
googlers199475653
pharmgkbrs199475653
gwascentralrs199475653
openSNPrs199475653
23andMers199475653
SNPshotrs199475653
SNPdbers199475653
MSV3drs199475653
GWAS Ctlgrs199475653
Max Magnitude3
ClinVar
Risk rs199475653(T;T)
Alt rs199475653(T;T)
Reference Rs199475653(-;-)
Significance Untested
Disease not provided
Variation info
Gene PAH
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.103246595_103246596insA
CLNSRC
CLNACC RCV000089128.1,