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rs200305064

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs200305064(A;A)
Make rs200305064(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position124738114
GeneUMPS
is asnp
is mentioned by
dbSNPrs200305064
dbSNP (classic)rs200305064
ClinGenrs200305064
ebirs200305064
HLIrs200305064
Exacrs200305064
Gnomadrs200305064
Varsomers200305064
LitVarrs200305064
Maprs200305064
PheGenIrs200305064
Biobankrs200305064
1000 genomesrs200305064
hgdprs200305064
ensemblrs200305064
geneviewrs200305064
scholarrs200305064
googlers200305064
pharmgkbrs200305064
gwascentralrs200305064
openSNPrs200305064
23andMers200305064
23andMe allrs200305064
SNPshotrs200305064
SNPdbers200305064
MSV3drs200305064
GWAS Ctlgrs200305064
Max Magnitude0
ClinVar
Risk rs200305064(A;A) rs200305064(C;C)
Alt rs200305064(A;A) rs200305064(C;C)
Reference Rs200305064(T;T)
Significance Probable-Pathogenic
Disease Orotic aciduria not provided
Variation info
Gene UMPS
CLNDBN Orotic aciduria not provided
Reversed 0
HGVS NC_000003.11:g.124456961T>A
CLNSRC
CLNACC RCV000271631.1, RCV000489675.1,