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rs793888533

From SNPedia

Orientationplus
Geno Mag Summary
(ACTCTCTCC;ACTCTCTCC) 0 common in clinvar
Make rs793888533(-;-)
Make rs793888533(-;CTCTCTCCA)
Make rs793888533(CTCTCTCCA;CTCTCTCCA)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position140114483
GenePURA
is asnp
is mentioned by
dbSNPrs793888533
ebirs793888533
HLIrs793888533
Exacrs793888533
Varsomers793888533
Maprs793888533
PheGenIrs793888533
hapmaprs793888533
1000 genomesrs793888533
hgdprs793888533
ensemblrs793888533
gopubmedrs793888533
geneviewrs793888533
scholarrs793888533
googlers793888533
pharmgkbrs793888533
gwascentralrs793888533
openSNPrs793888533
23andMers793888533
23andMe allrs793888533
SNP Nexus

SNPshotrs793888533
SNPdbers793888533
MSV3drs793888533
GWAS Ctlgrs793888533
Max Magnitude0
ClinVar
Risk rs793888533(;)
Alt rs793888533(;)
Reference rs793888533(ACTCTCTCC;ACTCTCTCC)
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.139494068_139494076delCTCTCTCCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000172935.1, RCV000201223.1,