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rs587782996

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587782996(C;G)
Make rs587782996(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position140114544
GenePURA
is asnp
is mentioned by
dbSNPrs587782996
ebirs587782996
HLIrs587782996
Exacrs587782996
Varsomers587782996
Maprs587782996
PheGenIrs587782996
hapmaprs587782996
1000 genomesrs587782996
hgdprs587782996
ensemblrs587782996
gopubmedrs587782996
geneviewrs587782996
scholarrs587782996
googlers587782996
pharmgkbrs587782996
gwascentralrs587782996
openSNPrs587782996
23andMers587782996
23andMe allrs587782996
SNP Nexus

SNPshotrs587782996
SNPdbers587782996
MSV3drs587782996
GWAS Ctlgrs587782996
Max Magnitude0
ClinVar
Risk rs587782996(G,T;G,T)
Alt rs587782996(G,T;G,T)
Reference rs587782996(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.139494129C>G
CLNSRC
CLNACC RCV000144526.1,