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rs397518438

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397518438(-;-)
Make rs397518438(-;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position33017454
GeneNT5C3A
is asnp
is mentioned by
dbSNPrs397518438
ebirs397518438
HLIrs397518438
Exacrs397518438
Varsomers397518438
Maprs397518438
PheGenIrs397518438
hapmaprs397518438
1000 genomesrs397518438
hgdprs397518438
ensemblrs397518438
gopubmedrs397518438
geneviewrs397518438
scholarrs397518438
googlers397518438
pharmgkbrs397518438
gwascentralrs397518438
openSNPrs397518438
23andMers397518438
23andMe allrs397518438
SNP Nexus

SNPshotrs397518438
SNPdbers397518438
MSV3drs397518438
GWAS Ctlgrs397518438
Max Magnitude0
ClinVar
Risk rs397518438(;)
Alt rs397518438(;)
Reference rs397518438(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.33057066delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000004744.3,