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rs104894280

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894280(A;A)
Make rs104894280(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position112233205
GenePTS
is asnp
is mentioned by
dbSNPrs104894280
ebirs104894280
HLIrs104894280
Exacrs104894280
Varsomers104894280
Maprs104894280
PheGenIrs104894280
hapmaprs104894280
1000 genomesrs104894280
hgdprs104894280
ensemblrs104894280
gopubmedrs104894280
geneviewrs104894280
scholarrs104894280
googlers104894280
pharmgkbrs104894280
gwascentralrs104894280
openSNPrs104894280
23andMers104894280
23andMe allrs104894280
SNP Nexus

SNPshotrs104894280
SNPdbers104894280
MSV3drs104894280
GWAS Ctlgrs104894280
GMAF0.0004591
Max Magnitude0
OMIM612719
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104894280(A;A)
Alt rs104894280(A;A)
Reference rs104894280(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.112103928G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000513.2,