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rs118203925

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of Phenylketonuria allele
(T;T) 6 Phenyketonuria
ReferenceGRCh38 38.1/141
Chromosome12
Position102912819
GenePAH
is asnp
is mentioned by
dbSNPrs118203925
ebirs118203925
HLIrs118203925
Exacrs118203925
Varsomers118203925
Maprs118203925
PheGenIrs118203925
hapmaprs118203925
1000 genomesrs118203925
hgdprs118203925
ensemblrs118203925
gopubmedrs118203925
geneviewrs118203925
scholarrs118203925
googlers118203925
pharmgkbrs118203925
gwascentralrs118203925
openSNPrs118203925
23andMers118203925
23andMe allrs118203925
SNP Nexus

SNPshotrs118203925
SNPdbers118203925
MSV3drs118203925
GWAS Ctlgrs118203925
Max Magnitude6
OMIM612349
Desc
Variant0056
Relatedalso
ClinVar
Risk rs118203925(A,T;A,T)
Alt rs118203925(A,T;A,T)
Reference rs118203925(C;C)
Significance Pathogenic
Disease Hyperphenylalaninemia not provided
Variation info
Gene PAH
CLNDBN Hyperphenylalaninemia, non-pku not provided
Reversed 1
HGVS NC_000012.11:g.103306597G>A; NC_000012.11:g.103306597G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000662.3, RCV000088839.1, RCV000088838.1,