Have questions? Visit https://www.reddit.com/r/SNPedia

rs786204835

From SNPedia

Orientationplus
Geno Mag Summary
(CTT;CTT) 0 common in clinvar
Make rs786204835(-;-)
Make rs786204835(-;TTC)
Make rs786204835(TTC;TTC)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position140114878
GenePURA
is asnp
is mentioned by
dbSNPrs786204835
ebirs786204835
HLIrs786204835
Exacrs786204835
Varsomers786204835
Maprs786204835
PheGenIrs786204835
hapmaprs786204835
1000 genomesrs786204835
hgdprs786204835
ensemblrs786204835
gopubmedrs786204835
geneviewrs786204835
scholarrs786204835
googlers786204835
pharmgkbrs786204835
gwascentralrs786204835
openSNPrs786204835
23andMers786204835
23andMe allrs786204835
SNP Nexus

SNPshotrs786204835
SNPdbers786204835
MSV3drs786204835
GWAS Ctlgrs786204835
Max Magnitude0
ClinVar
Risk rs786204835(;)
Alt rs786204835(;)
Reference rs786204835(CTT;CTT)
Significance Pathogenic
Disease Mental retardation not provided
Variation info
Gene PURA
CLNDBN Mental retardation, autosomal dominant 31 not provided
Reversed 0
HGVS NC_000005.9:g.139494463_139494465delTTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000169739.5, RCV000172939.1,