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rs794726657

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794726657(A;T)
Make rs794726657(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position112228271
GenePTS
is asnp
is mentioned by
dbSNPrs794726657
ebirs794726657
HLIrs794726657
Exacrs794726657
Varsomers794726657
Maprs794726657
PheGenIrs794726657
hapmaprs794726657
1000 genomesrs794726657
hgdprs794726657
ensemblrs794726657
gopubmedrs794726657
geneviewrs794726657
scholarrs794726657
googlers794726657
pharmgkbrs794726657
gwascentralrs794726657
openSNPrs794726657
23andMers794726657
23andMe allrs794726657
SNP Nexus

SNPshotrs794726657
SNPdbers794726657
MSV3drs794726657
GWAS Ctlgrs794726657
Max Magnitude0
ClinVar
Risk rs794726657(T;T)
Alt rs794726657(T;T)
Reference rs794726657(A;A)
Significance Pathogenic
Disease 6-pyruvoyl-tetrahydropterin synthase deficiency
Variation info
Gene PTS
CLNDBN 6-pyruvoyl-tetrahydropterin synthase deficiency
Reversed 0
HGVS NC_000011.9:g.112098994A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000515.3,