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rs587782994

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587782994(A;G)
Make rs587782994(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position140114470
GenePURA
is asnp
is mentioned by
dbSNPrs587782994
ebirs587782994
HLIrs587782994
Exacrs587782994
Varsomers587782994
Maprs587782994
PheGenIrs587782994
hapmaprs587782994
1000 genomesrs587782994
hgdprs587782994
ensemblrs587782994
gopubmedrs587782994
geneviewrs587782994
scholarrs587782994
googlers587782994
pharmgkbrs587782994
gwascentralrs587782994
openSNPrs587782994
23andMers587782994
23andMe allrs587782994
SNP Nexus

SNPshotrs587782994
SNPdbers587782994
MSV3drs587782994
GWAS Ctlgrs587782994
Max Magnitude0
ClinVar
Risk rs587782994(G;G)
Alt rs587782994(G;G)
Reference rs587782994(A;A)
Significance Pathogenic
Disease Delayed speech and language development Global developmental delay Intellectual disability Neonatal hypotonia Seizures Mental retardation
Variation info
Gene PURA
CLNDBN Delayed speech and language development Global developmental delay Intellectual disability Neonatal hypotonia Seizures Mental retardation, autosomal dominant 31
Reversed 0
HGVS NC_000005.9:g.139494055A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000144524.1, RCV000149572.4,