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rs104894028

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894028(A;G)
Make rs104894028(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position33017461
GeneNT5C3A
is asnp
is mentioned by
dbSNPrs104894028
ebirs104894028
HLIrs104894028
Exacrs104894028
Varsomers104894028
Maprs104894028
PheGenIrs104894028
hapmaprs104894028
1000 genomesrs104894028
hgdprs104894028
ensemblrs104894028
gopubmedrs104894028
geneviewrs104894028
scholarrs104894028
googlers104894028
pharmgkbrs104894028
gwascentralrs104894028
openSNPrs104894028
23andMers104894028
23andMe allrs104894028
SNP Nexus

SNPshotrs104894028
SNPdbers104894028
MSV3drs104894028
GWAS Ctlgrs104894028
Max Magnitude0
OMIM606224
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894028(G;G)
Alt rs104894028(G;G)
Reference rs104894028(A;A)
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.33057073T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004743.3,