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rs104894027

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894027(G;G)
Make rs104894027(G;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position33017487
GeneNT5C3A
is asnp
is mentioned by
dbSNPrs104894027
ebirs104894027
HLIrs104894027
Exacrs104894027
Varsomers104894027
Maprs104894027
PheGenIrs104894027
hapmaprs104894027
1000 genomesrs104894027
hgdprs104894027
ensemblrs104894027
gopubmedrs104894027
geneviewrs104894027
scholarrs104894027
googlers104894027
pharmgkbrs104894027
gwascentralrs104894027
openSNPrs104894027
23andMers104894027
23andMe allrs104894027
SNP Nexus

SNPshotrs104894027
SNPdbers104894027
MSV3drs104894027
GWAS Ctlgrs104894027
Max Magnitude0
OMIM606224
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894027(G;G)
Alt rs104894027(G;G)
Reference rs104894027(T;T)
Significance Pathogenic
Disease Uridine 5-prime monophosphate hydrolase deficiency
Variation info
Gene NT5C3A
CLNDBN Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
Reversed 1
HGVS NC_000007.13:g.33057099A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004740.3,