rs587782994
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs587782994(A;G) |
Make rs587782994(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 140114470 |
Gene | PURA |
is a | snp |
is | mentioned by |
dbSNP | rs587782994 |
dbSNP (classic) | rs587782994 |
ClinGen | rs587782994 |
ebi | rs587782994 |
HLI | rs587782994 |
Exac | rs587782994 |
Gnomad | rs587782994 |
Varsome | rs587782994 |
LitVar | rs587782994 |
Map | rs587782994 |
PheGenI | rs587782994 |
Biobank | rs587782994 |
1000 genomes | rs587782994 |
hgdp | rs587782994 |
ensembl | rs587782994 |
geneview | rs587782994 |
scholar | rs587782994 |
rs587782994 | |
pharmgkb | rs587782994 |
gwascentral | rs587782994 |
openSNP | rs587782994 |
23andMe | rs587782994 |
SNPshot | rs587782994 |
SNPdbe | rs587782994 |
MSV3d | rs587782994 |
GWAS Ctlg | rs587782994 |
Max Magnitude | 0 |
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 UniProtKB (protein) |
CLNACC | RCV000144524.1, RCV000149572.4, |