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rs793888527

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs793888527(C;C)
Make rs793888527(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position140114744
GenePURA
is asnp
is mentioned by
dbSNPrs793888527
ebirs793888527
HLIrs793888527
Exacrs793888527
Varsomers793888527
Maprs793888527
PheGenIrs793888527
hapmaprs793888527
1000 genomesrs793888527
hgdprs793888527
ensemblrs793888527
gopubmedrs793888527
geneviewrs793888527
scholarrs793888527
googlers793888527
pharmgkbrs793888527
gwascentralrs793888527
openSNPrs793888527
23andMers793888527
23andMe allrs793888527
SNP Nexus

SNPshotrs793888527
SNPdbers793888527
MSV3drs793888527
GWAS Ctlgrs793888527
Max Magnitude0
ClinVar
Risk rs793888527(C;C)
Alt rs793888527(C;C)
Reference rs793888527(T;T)
Significance Pathogenic
Disease not provided Mental retardation
Variation info
Gene PURA
CLNDBN not provided Mental retardation, autosomal dominant 31
Reversed 0
HGVS NC_000005.9:g.139494329T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000172929.1, RCV000201221.1,