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rs587782999

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587782999(C;C)
Make rs587782999(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position140114446
GenePURA
is asnp
is mentioned by
dbSNPrs587782999
ebirs587782999
HLIrs587782999
Exacrs587782999
Varsomers587782999
Maprs587782999
PheGenIrs587782999
hapmaprs587782999
1000 genomesrs587782999
hgdprs587782999
ensemblrs587782999
gopubmedrs587782999
geneviewrs587782999
scholarrs587782999
googlers587782999
pharmgkbrs587782999
gwascentralrs587782999
openSNPrs587782999
23andMers587782999
23andMe allrs587782999
SNP Nexus

SNPshotrs587782999
SNPdbers587782999
MSV3drs587782999
GWAS Ctlgrs587782999
Max Magnitude0
ClinVar
Risk rs587782999(C;C)
Alt rs587782999(C;C)
Reference rs587782999(G;G)
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.139494031G>C
CLNSRC
CLNACC RCV000144529.1,