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rs397518435

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397518435(G;T)
Make rs397518435(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position33015871
GeneNT5C3A
is asnp
is mentioned by
dbSNPrs397518435
ClinGenrs397518435
ebirs397518435
HLIrs397518435
Exacrs397518435
Varsomers397518435
Maprs397518435
PheGenIrs397518435
hapmaprs397518435
1000 genomesrs397518435
hgdprs397518435
ensemblrs397518435
gopubmedrs397518435
geneviewrs397518435
scholarrs397518435
googlers397518435
pharmgkbrs397518435
gwascentralrs397518435
openSNPrs397518435
23andMers397518435
23andMe allrs397518435
SNP Nexus

SNPshotrs397518435
SNPdbers397518435
MSV3drs397518435
GWAS Ctlgrs397518435
Max Magnitude0
ClinVar
Risk rs397518435(C;C) rs397518435(T;T)
Alt rs397518435(C;C) rs397518435(T;T)
Reference Rs397518435(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.33055483C>A; NC_000007.13:g.33055483C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004738.3, RCV000004742.3,