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rs542645236

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs542645236(C;C)
Make rs542645236(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102894767
GenePAH
is asnp
is mentioned by
dbSNPrs542645236
ebirs542645236
HLIrs542645236
Exacrs542645236
Varsomers542645236
Maprs542645236
PheGenIrs542645236
hapmaprs542645236
1000 genomesrs542645236
hgdprs542645236
ensemblrs542645236
gopubmedrs542645236
geneviewrs542645236
scholarrs542645236
googlers542645236
pharmgkbrs542645236
gwascentralrs542645236
openSNPrs542645236
23andMers542645236
23andMe allrs542645236
SNP Nexus

SNPshotrs542645236
SNPdbers542645236
MSV3drs542645236
GWAS Ctlgrs542645236
Max Magnitude0
ClinVar
Risk rs542645236(C;C)
Alt rs542645236(C;C)
Reference rs542645236(T;T)
Significance Probable-Pathogenic
Disease Phenylketonuria
Variation info
Gene PAH
CLNDBN Phenylketonuria
Reversed 0
HGVS NC_000012.11:g.103288545T>C
CLNSRC
CLNACC RCV000210807.1,