Have questions? Visit https://www.reddit.com/r/SNPedia

rs104894026

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894026(C;T)
Make rs104894026(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position33017501
GeneNT5C3A
is asnp
is mentioned by
dbSNPrs104894026
ebirs104894026
HLIrs104894026
Exacrs104894026
Varsomers104894026
Maprs104894026
PheGenIrs104894026
hapmaprs104894026
1000 genomesrs104894026
hgdprs104894026
ensemblrs104894026
gopubmedrs104894026
geneviewrs104894026
scholarrs104894026
googlers104894026
pharmgkbrs104894026
gwascentralrs104894026
openSNPrs104894026
23andMers104894026
23andMe allrs104894026
SNP Nexus

SNPshotrs104894026
SNPdbers104894026
MSV3drs104894026
GWAS Ctlgrs104894026
Max Magnitude0
OMIM606224
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894026(T;T)
Alt rs104894026(T;T)
Reference rs104894026(C;C)
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.33057113G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004737.3,