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rs1801152

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;C) 3 Carrier of a phenylketonuria mutation
(C;C) 0 common in clinvar
Make rs1801152(C;T)
Make rs1801152(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102840473
GenePAH
is asnp
is mentioned by
dbSNPrs1801152
dbSNP (classic)rs1801152
ClinGenrs1801152
ebirs1801152
HLIrs1801152
Exacrs1801152
Gnomadrs1801152
Varsomers1801152
LitVarrs1801152
Maprs1801152
PheGenIrs1801152
Biobankrs1801152
1000 genomesrs1801152
hgdprs1801152
ensemblrs1801152
geneviewrs1801152
scholarrs1801152
googlers1801152
pharmgkbrs1801152
gwascentralrs1801152
openSNPrs1801152
23andMers1801152
SNPshotrs1801152
SNPdbers1801152
MSV3drs1801152
GWAS Ctlgrs1801152
Max Magnitude3
ClinVar
Risk rs1801152(T;T)
Alt rs1801152(T;T)
Reference Rs1801152(C;C)
Significance Other
Disease not provided not specified
Variation info
Gene PAH
CLNDBN not provided not specified
Reversed 1
HGVS NC_000012.11:g.103234251G>A
CLNSRC
CLNACC RCV000088814.1, RCV000174235.3,