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rs104894273

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894273(A;A)
Make rs104894273(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position112226517
GenePTS
is asnp
is mentioned by
dbSNPrs104894273
ebirs104894273
HLIrs104894273
Exacrs104894273
Varsomers104894273
Maprs104894273
PheGenIrs104894273
hapmaprs104894273
1000 genomesrs104894273
hgdprs104894273
ensemblrs104894273
gopubmedrs104894273
geneviewrs104894273
scholarrs104894273
googlers104894273
pharmgkbrs104894273
gwascentralrs104894273
openSNPrs104894273
23andMers104894273
23andMe allrs104894273
SNP Nexus

SNPshotrs104894273
SNPdbers104894273
MSV3drs104894273
GWAS Ctlgrs104894273
Max Magnitude0
OMIM612719
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894273(A;A)
Alt rs104894273(A;A)
Reference rs104894273(G;G)
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.112097240G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000505.2,