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rs587782998

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587782998(A;A)
Make rs587782998(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position140114651
GenePURA
is asnp
is mentioned by
dbSNPrs587782998
ebirs587782998
HLIrs587782998
Exacrs587782998
Varsomers587782998
Maprs587782998
PheGenIrs587782998
hapmaprs587782998
1000 genomesrs587782998
hgdprs587782998
ensemblrs587782998
gopubmedrs587782998
geneviewrs587782998
scholarrs587782998
googlers587782998
pharmgkbrs587782998
gwascentralrs587782998
openSNPrs587782998
23andMers587782998
23andMe allrs587782998
SNP Nexus

SNPshotrs587782998
SNPdbers587782998
MSV3drs587782998
GWAS Ctlgrs587782998
Max Magnitude0
ClinVar
Risk rs587782998(A;A)
Alt rs587782998(A;A)
Reference rs587782998(T;T)
Significance Pathogenic
Disease Delayed speech and language development Global developmental delay Intellectual disability Neonatal hypotonia
Variation info
Gene PURA
CLNDBN Delayed speech and language development Global developmental delay Intellectual disability Neonatal hypotonia
Reversed 0
HGVS NC_000005.9:g.139494236T>A
CLNSRC
CLNACC RCV000144528.1,