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rs587782992

From SNPedia

Orientationplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs587782992(-;-)
Make rs587782992(-;TC)
Make rs587782992(TC;TC)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position140114488
GenePURA
is asnp
is mentioned by
dbSNPrs587782992
ebirs587782992
HLIrs587782992
Exacrs587782992
Varsomers587782992
Maprs587782992
PheGenIrs587782992
hapmaprs587782992
1000 genomesrs587782992
hgdprs587782992
ensemblrs587782992
gopubmedrs587782992
geneviewrs587782992
scholarrs587782992
googlers587782992
pharmgkbrs587782992
gwascentralrs587782992
openSNPrs587782992
23andMers587782992
23andMe allrs587782992
SNP Nexus

SNPshotrs587782992
SNPdbers587782992
MSV3drs587782992
GWAS Ctlgrs587782992
Max Magnitude0
ClinVar
Risk rs587782992(;)
Alt rs587782992(;)
Reference rs587782992(CT;CT)
Significance Pathogenic
Disease Delayed speech and language development Global developmental delay Intellectual disability Neonatal hypotonia Mental retardation
Variation info
Gene PURA
CLNDBN Delayed speech and language development Global developmental delay Intellectual disability Neonatal hypotonia Mental retardation, autosomal dominant 31
Reversed 0
HGVS NC_000005.9:g.139494073_139494074delTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000144522.1, RCV000149570.4,