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rs104894276

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894276(C;T)
Make rs104894276(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position112233178
GenePTS
is asnp
is mentioned by
dbSNPrs104894276
ebirs104894276
HLIrs104894276
Exacrs104894276
Varsomers104894276
Maprs104894276
PheGenIrs104894276
hapmaprs104894276
1000 genomesrs104894276
hgdprs104894276
ensemblrs104894276
gopubmedrs104894276
geneviewrs104894276
scholarrs104894276
googlers104894276
pharmgkbrs104894276
gwascentralrs104894276
openSNPrs104894276
23andMers104894276
23andMe allrs104894276
SNP Nexus

SNPshotrs104894276
SNPdbers104894276
MSV3drs104894276
GWAS Ctlgrs104894276
GMAF0.0004591
Max Magnitude0
OMIM612719
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894276(G,T;G,T)
Alt rs104894276(G,T;G,T)
Reference rs104894276(C;C)
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.112103901C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000509.2,