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rs786204834

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786204834(A;T)
Make rs786204834(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position140114797
GenePURA
is asnp
is mentioned by
dbSNPrs786204834
ebirs786204834
HLIrs786204834
Exacrs786204834
Varsomers786204834
Maprs786204834
PheGenIrs786204834
hapmaprs786204834
1000 genomesrs786204834
hgdprs786204834
ensemblrs786204834
gopubmedrs786204834
geneviewrs786204834
scholarrs786204834
googlers786204834
pharmgkbrs786204834
gwascentralrs786204834
openSNPrs786204834
23andMers786204834
23andMe allrs786204834
SNP Nexus

SNPshotrs786204834
SNPdbers786204834
MSV3drs786204834
GWAS Ctlgrs786204834
Max Magnitude0
ClinVar
Risk rs786204834(T;T)
Alt rs786204834(T;T)
Reference rs786204834(A;A)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene PURA
CLNDBN Mental retardation, autosomal dominant 31
Reversed 0
HGVS NC_000005.9:g.139494382A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000169738.4,