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rs587782993

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587782993(C;T)
Make rs587782993(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position140114737
GenePURA
is asnp
is mentioned by
dbSNPrs587782993
ebirs587782993
HLIrs587782993
Exacrs587782993
Varsomers587782993
Maprs587782993
PheGenIrs587782993
hapmaprs587782993
1000 genomesrs587782993
hgdprs587782993
ensemblrs587782993
gopubmedrs587782993
geneviewrs587782993
scholarrs587782993
googlers587782993
pharmgkbrs587782993
gwascentralrs587782993
openSNPrs587782993
23andMers587782993
23andMe allrs587782993
SNP Nexus

SNPshotrs587782993
SNPdbers587782993
MSV3drs587782993
GWAS Ctlgrs587782993
Max Magnitude0
ClinVar
Risk rs587782993(T;T)
Alt rs587782993(T;T)
Reference rs587782993(C;C)
Significance Pathogenic
Disease Delayed speech and language development Global developmental delay Intellectual disability Neonatal hypotonia Seizures Mental retardation
Variation info
Gene PURA
CLNDBN Delayed speech and language development Global developmental delay Intellectual disability Neonatal hypotonia Seizures Mental retardation, autosomal dominant 31
Reversed 0
HGVS NC_000005.9:g.139494322C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000144523.1, RCV000149571.4,