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rs587783001

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783001(C;C)
Make rs587783001(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position140114777
GenePURA
is asnp
is mentioned by
dbSNPrs587783001
ebirs587783001
HLIrs587783001
Exacrs587783001
Varsomers587783001
Maprs587783001
PheGenIrs587783001
hapmaprs587783001
1000 genomesrs587783001
hgdprs587783001
ensemblrs587783001
gopubmedrs587783001
geneviewrs587783001
scholarrs587783001
googlers587783001
pharmgkbrs587783001
gwascentralrs587783001
openSNPrs587783001
23andMers587783001
23andMe allrs587783001
SNP Nexus

SNPshotrs587783001
SNPdbers587783001
MSV3drs587783001
GWAS Ctlgrs587783001
Max Magnitude0
ClinVar
Risk rs587783001(C;C)
Alt rs587783001(C;C)
Reference rs587783001(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.139494362G>C
CLNSRC
CLNACC RCV000144531.1,