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rs397518437

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397518437(-;-)
Make rs397518437(-;A)
Make rs397518437(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position33019678
GeneNT5C3A
is asnp
is mentioned by
dbSNPrs397518437
ebirs397518437
HLIrs397518437
Exacrs397518437
Varsomers397518437
Maprs397518437
PheGenIrs397518437
hapmaprs397518437
1000 genomesrs397518437
hgdprs397518437
ensemblrs397518437
gopubmedrs397518437
geneviewrs397518437
scholarrs397518437
googlers397518437
pharmgkbrs397518437
gwascentralrs397518437
openSNPrs397518437
23andMers397518437
23andMe allrs397518437
SNP Nexus

SNPshotrs397518437
SNPdbers397518437
MSV3drs397518437
GWAS Ctlgrs397518437
Max Magnitude0
ClinVar
Risk rs397518437(A;A)
Alt rs397518437(A;A)
Reference rs397518437(;)
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.33059291dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000004741.3,