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rs121964924

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121964924(C;C)
Make rs121964924(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position104427994
GeneDPYS
is asnp
is mentioned by
dbSNPrs121964924
ebirs121964924
HLIrs121964924
Exacrs121964924
Varsomers121964924
Maprs121964924
PheGenIrs121964924
hapmaprs121964924
1000 genomesrs121964924
hgdprs121964924
ensemblrs121964924
gopubmedrs121964924
geneviewrs121964924
scholarrs121964924
googlers121964924
pharmgkbrs121964924
gwascentralrs121964924
openSNPrs121964924
23andMers121964924
23andMe allrs121964924
SNP Nexus

SNPshotrs121964924
SNPdbers121964924
MSV3drs121964924
GWAS Ctlgrs121964924
GMAF0.0004591
Max Magnitude0
OMIM613326
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121964924(C;C)
Alt rs121964924(C;C)
Reference rs121964924(T;T)
Significance Pathogenic
Disease Dihydropyrimidinase deficiency
Variation info
Gene DPYS
CLNDBN Dihydropyrimidinase deficiency
Reversed 1
HGVS NC_000008.10:g.105440222A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000209.4,