rs587780470
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;C) | 8.8 | Mental retardation, type 5; SYNGAP1-related |
(C;C) | 0 | common in clinvar |
Make rs587780470(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 33440834 |
Gene | SYNGAP1 |
is a | snp |
is | mentioned by |
dbSNP | rs587780470 |
dbSNP (classic) | rs587780470 |
ClinGen | rs587780470 |
ebi | rs587780470 |
HLI | rs587780470 |
Exac | rs587780470 |
Gnomad | rs587780470 |
Varsome | rs587780470 |
LitVar | rs587780470 |
Map | rs587780470 |
PheGenI | rs587780470 |
Biobank | rs587780470 |
1000 genomes | rs587780470 |
hgdp | rs587780470 |
ensembl | rs587780470 |
geneview | rs587780470 |
scholar | rs587780470 |
rs587780470 | |
pharmgkb | rs587780470 |
gwascentral | rs587780470 |
openSNP | rs587780470 |
23andMe | rs587780470 |
SNPshot | rs587780470 |
SNPdbe | rs587780470 |
MSV3d | rs587780470 |
GWAS Ctlg | rs587780470 |
Merged from | Rs587780473 |
Max Magnitude | 8.8 |
ClinVar | |
---|---|
Risk | rs587780470(-;-) |
Alt | rs587780470(-;-) |
Reference | Rs587780470(C;C) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | SYNGAP1 |
CLNDBN | Mental retardation, autosomal dominant 5 |
Reversed | 0 |
HGVS | NC_000006.11:g.33408612delC |
CLNSRC | |
CLNACC | RCV000118565.3, |