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rs104894275

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894275(A;G)
Make rs104894275(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position112228665
GenePTS
is asnp
is mentioned by
dbSNPrs104894275
ebirs104894275
HLIrs104894275
Exacrs104894275
Varsomers104894275
Maprs104894275
PheGenIrs104894275
hapmaprs104894275
1000 genomesrs104894275
hgdprs104894275
ensemblrs104894275
gopubmedrs104894275
geneviewrs104894275
scholarrs104894275
googlers104894275
pharmgkbrs104894275
gwascentralrs104894275
openSNPrs104894275
23andMers104894275
23andMe allrs104894275
SNP Nexus

SNPshotrs104894275
SNPdbers104894275
MSV3drs104894275
GWAS Ctlgrs104894275
Max Magnitude0
OMIM612719
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894275(G;G)
Alt rs104894275(G;G)
Reference rs104894275(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.112099388A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000508.2,