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rs121964923

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121964923(A;G)
Make rs121964923(G;G)
ReferenceGRCh38 38.1/142
Chromosome8
Position104428071
GeneDPYS
is asnp
is mentioned by
dbSNPrs121964923
ebirs121964923
HLIrs121964923
Exacrs121964923
Varsomers121964923
Maprs121964923
PheGenIrs121964923
hapmaprs121964923
1000 genomesrs121964923
hgdprs121964923
ensemblrs121964923
gopubmedrs121964923
geneviewrs121964923
scholarrs121964923
googlers121964923
pharmgkbrs121964923
gwascentralrs121964923
openSNPrs121964923
23andMers121964923
23andMe allrs121964923
SNP Nexus

SNPshotrs121964923
SNPdbers121964923
MSV3drs121964923
GWAS Ctlgrs121964923
GMAF0.001377
Max Magnitude0
OMIM613326
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121964923(G;G)
Alt rs121964923(G;G)
Reference rs121964923(A;A)
Significance Pathogenic
Disease Dihydropyrimidinase deficiency
Variation info
Gene DPYS
CLNDBN Dihydropyrimidinase deficiency
Reversed 1
HGVS NC_000008.10:g.105440299T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000207.3,