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rs76212747

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 5.9 Non-phenylketonuria hyperphenylalaninemia genotype
(C;T) 3 Carrier of a non-phenylketonuria hyperphenylalaninemia allele
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/142
Chromosome12
Position102852923
GenePAH
is asnp
is mentioned by
dbSNPrs76212747
ClinGenrs76212747
ebirs76212747
HLIrs76212747
Exacrs76212747
Varsomers76212747
Maprs76212747
PheGenIrs76212747
hapmaprs76212747
1000 genomesrs76212747
hgdprs76212747
ensemblrs76212747
gopubmedrs76212747
geneviewrs76212747
scholarrs76212747
googlers76212747
pharmgkbrs76212747
gwascentralrs76212747
openSNPrs76212747
23andMers76212747
23andMe allrs76212747
SNP Nexus

SNPshotrs76212747
SNPdbers76212747
MSV3drs76212747
GWAS Ctlgrs76212747
Max Magnitude5.9
OMIM612349
Desc
Variant0059
Relatedalso
ClinVar
Risk rs76212747(A;A) Rs76212747(C;C)
Alt rs76212747(A;A) Rs76212747(C;C)
Reference Rs76212747(T;T)
Significance Other
Disease Hyperphenylalaninemia not provided Hyperphenylalaninaemia Phenylketonuria
Variation info
Gene PAH
CLNDBN Hyperphenylalaninemia, non-pku not provided Hyperphenylalaninaemia Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103246701A>G; NC_000012.11:g.103246701A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000664.3, RCV000089065.3, RCV000148724.1, RCV000346938.1, RCV000089064.1,