rs879253762
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;GT) | 8.8 | Mental retardation, type 5; SYNGAP1-related |
(GT;GT) | 0 | common in clinvar |
Make rs879253762(-;-) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 33443130 |
Gene | SYNGAP1 |
is a | snp |
is | mentioned by |
dbSNP | rs879253762 |
dbSNP (classic) | rs879253762 |
ClinGen | rs879253762 |
ebi | rs879253762 |
HLI | rs879253762 |
Exac | rs879253762 |
Gnomad | rs879253762 |
Varsome | rs879253762 |
LitVar | rs879253762 |
Map | rs879253762 |
PheGenI | rs879253762 |
Biobank | rs879253762 |
1000 genomes | rs879253762 |
hgdp | rs879253762 |
ensembl | rs879253762 |
geneview | rs879253762 |
scholar | rs879253762 |
rs879253762 | |
pharmgkb | rs879253762 |
gwascentral | rs879253762 |
openSNP | rs879253762 |
23andMe | rs879253762 |
SNPshot | rs879253762 |
SNPdbe | rs879253762 |
MSV3d | rs879253762 |
GWAS Ctlg | rs879253762 |
Max Magnitude | 8.8 |
ClinVar | |
---|---|
Risk | rs879253762(-;-) |
Alt | rs879253762(-;-) |
Reference | Rs879253762(GT;GT) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | SYNGAP1 |
CLNDBN | Mental retardation, autosomal dominant 5 |
Reversed | 0 |
HGVS | NC_000006.11:g.33410907_33410908delGT |
CLNSRC | University Hospital of Geneva |
CLNACC | RCV000234890.1, |