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rs786204833

From SNPedia

Orientationplus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs786204833(-;-)
Make rs786204833(-;GT)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position140114907
GenePURA
is asnp
is mentioned by
dbSNPrs786204833
ebirs786204833
HLIrs786204833
Exacrs786204833
Varsomers786204833
Maprs786204833
PheGenIrs786204833
hapmaprs786204833
1000 genomesrs786204833
hgdprs786204833
ensemblrs786204833
gopubmedrs786204833
geneviewrs786204833
scholarrs786204833
googlers786204833
pharmgkbrs786204833
gwascentralrs786204833
openSNPrs786204833
23andMers786204833
23andMe allrs786204833
SNP Nexus

SNPshotrs786204833
SNPdbers786204833
MSV3drs786204833
GWAS Ctlgrs786204833
Max Magnitude0
ClinVar
Risk rs786204833(;)
Alt rs786204833(;)
Reference rs786204833(GT;GT)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene PURA
CLNDBN Mental retardation, autosomal dominant 31
Reversed 0
HGVS NC_000005.9:g.139494492_139494493delGT
CLNSRC OMIM Allelic Variant
CLNACC RCV000169737.4,