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rs587782995

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587782995(C;C)
Make rs587782995(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position140114480
GenePURA
is asnp
is mentioned by
dbSNPrs587782995
ebirs587782995
HLIrs587782995
Exacrs587782995
Varsomers587782995
Maprs587782995
PheGenIrs587782995
hapmaprs587782995
1000 genomesrs587782995
hgdprs587782995
ensemblrs587782995
gopubmedrs587782995
geneviewrs587782995
scholarrs587782995
googlers587782995
pharmgkbrs587782995
gwascentralrs587782995
openSNPrs587782995
23andMers587782995
23andMe allrs587782995
SNP Nexus

SNPshotrs587782995
SNPdbers587782995
MSV3drs587782995
GWAS Ctlgrs587782995
Max Magnitude0
ClinVar
Risk rs587782995(C;C)
Alt rs587782995(C;C)
Reference rs587782995(T;T)
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.139494065T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000144525.1, RCV000149573.4,