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rs587782997

From SNPedia

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Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587782997(C;G)
Make rs587782997(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position140114964
GenePURA
is asnp
is mentioned by
dbSNPrs587782997
ebirs587782997
HLIrs587782997
Exacrs587782997
Varsomers587782997
Maprs587782997
PheGenIrs587782997
hapmaprs587782997
1000 genomesrs587782997
hgdprs587782997
ensemblrs587782997
gopubmedrs587782997
geneviewrs587782997
scholarrs587782997
googlers587782997
pharmgkbrs587782997
gwascentralrs587782997
openSNPrs587782997
23andMers587782997
23andMe allrs587782997
SNP Nexus

SNPshotrs587782997
SNPdbers587782997
MSV3drs587782997
GWAS Ctlgrs587782997
Max Magnitude0
ClinVar
Risk rs587782997(G;G)
Alt rs587782997(G;G)
Reference rs587782997(C;C)
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.139494549C>G
CLNSRC
CLNACC RCV000144527.1,