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rs587783000

From SNPedia

Orientationplus
Geno Mag Summary
(TCG;TCG) 0 common in clinvar
Make rs587783000(-;-)
Make rs587783000(-;TCG)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position140114444
GenePURA
is asnp
is mentioned by
dbSNPrs587783000
ebirs587783000
HLIrs587783000
Exacrs587783000
Varsomers587783000
Maprs587783000
PheGenIrs587783000
hapmaprs587783000
1000 genomesrs587783000
hgdprs587783000
ensemblrs587783000
gopubmedrs587783000
geneviewrs587783000
scholarrs587783000
googlers587783000
pharmgkbrs587783000
gwascentralrs587783000
openSNPrs587783000
23andMers587783000
23andMe allrs587783000
SNP Nexus

SNPshotrs587783000
SNPdbers587783000
MSV3drs587783000
GWAS Ctlgrs587783000
Max Magnitude0
ClinVar
Risk rs587783000(;)
Alt rs587783000(;)
Reference rs587783000(TCG;TCG)
Significance Pathogenic
Disease Delayed speech and language development Global developmental delay Intellectual disability Neonatal hypotonia Seizures
Variation info
Gene PURA
CLNDBN Delayed speech and language development Global developmental delay Intellectual disability Neonatal hypotonia Seizures
Reversed 0
HGVS NC_000005.9:g.139494029_139494031delTCG
CLNSRC
CLNACC RCV000144530.1,