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rs104894029

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894029(C;C)
Make rs104894029(C;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position33015741
GeneNT5C3A
is asnp
is mentioned by
dbSNPrs104894029
ebirs104894029
HLIrs104894029
Exacrs104894029
Varsomers104894029
Maprs104894029
PheGenIrs104894029
hapmaprs104894029
1000 genomesrs104894029
hgdprs104894029
ensemblrs104894029
gopubmedrs104894029
geneviewrs104894029
scholarrs104894029
googlers104894029
pharmgkbrs104894029
gwascentralrs104894029
openSNPrs104894029
23andMers104894029
23andMe allrs104894029
SNP Nexus

SNPshotrs104894029
SNPdbers104894029
MSV3drs104894029
GWAS Ctlgrs104894029
Max Magnitude0
OMIM606224
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104894029(C;C)
Alt rs104894029(C;C)
Reference rs104894029(G;G)
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.33055353C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004745.3,