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rs104894277

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894277(A;A)
Make rs104894277(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position112230210
GenePTS
is asnp
is mentioned by
dbSNPrs104894277
ebirs104894277
HLIrs104894277
Exacrs104894277
Varsomers104894277
Maprs104894277
PheGenIrs104894277
hapmaprs104894277
1000 genomesrs104894277
hgdprs104894277
ensemblrs104894277
gopubmedrs104894277
geneviewrs104894277
scholarrs104894277
googlers104894277
pharmgkbrs104894277
gwascentralrs104894277
openSNPrs104894277
23andMers104894277
23andMe allrs104894277
SNP Nexus

SNPshotrs104894277
SNPdbers104894277
MSV3drs104894277
GWAS Ctlgrs104894277
Max Magnitude0
OMIM612719
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894277(A,C;A,C)
Alt rs104894277(A,C;A,C)
Reference rs104894277(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.112100933G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000510.2,