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

rs104894025

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894025(A;T)
Make rs104894025(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position33021317
GeneNT5C3A
is asnp
is mentioned by
dbSNPrs104894025
ebirs104894025
HLIrs104894025
Exacrs104894025
Varsomers104894025
Maprs104894025
PheGenIrs104894025
hapmaprs104894025
1000 genomesrs104894025
hgdprs104894025
ensemblrs104894025
gopubmedrs104894025
geneviewrs104894025
scholarrs104894025
googlers104894025
pharmgkbrs104894025
gwascentralrs104894025
openSNPrs104894025
23andMers104894025
23andMe allrs104894025
SNP Nexus

SNPshotrs104894025
SNPdbers104894025
MSV3drs104894025
GWAS Ctlgrs104894025
Max Magnitude0
OMIM606224
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894025(T;T)
Alt rs104894025(T;T)
Reference rs104894025(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.33060929T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004736.3,