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

rs397518436

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397518436(-;-)
Make rs397518436(-;GG)
Make rs397518436(GG;GG)
ReferenceGRCh38 38.1/141
Chromosome7
Position33015718
GeneNT5C3A
is asnp
is mentioned by
dbSNPrs397518436
ebirs397518436
HLIrs397518436
Exacrs397518436
Varsomers397518436
Maprs397518436
PheGenIrs397518436
hapmaprs397518436
1000 genomesrs397518436
hgdprs397518436
ensemblrs397518436
gopubmedrs397518436
geneviewrs397518436
scholarrs397518436
googlers397518436
pharmgkbrs397518436
gwascentralrs397518436
openSNPrs397518436
23andMers397518436
23andMe allrs397518436
SNP Nexus

SNPshotrs397518436
SNPdbers397518436
MSV3drs397518436
GWAS Ctlgrs397518436
Max Magnitude0
ClinVar
Risk rs397518436(GG;GG)
Alt rs397518436(GG;GG)
Reference rs397518436(;)
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.33055330_33055331insCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000004739.3,