rs1064796547
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;T) | 8.8 | Mental retardation, type 5; SYNGAP1-related |
(T;T) | 0 | common in clinvar |
Make rs1064796547(-;-) |
Chromosome | 6 |
Position | 33443468 |
Gene | SYNGAP1 |
is a | snp |
is | mentioned by |
dbSNP | rs1064796547 |
dbSNP (classic) | rs1064796547 |
ClinGen | rs1064796547 |
ebi | rs1064796547 |
HLI | rs1064796547 |
Exac | rs1064796547 |
Gnomad | rs1064796547 |
Varsome | rs1064796547 |
LitVar | rs1064796547 |
Map | rs1064796547 |
PheGenI | rs1064796547 |
Biobank | rs1064796547 |
1000 genomes | rs1064796547 |
hgdp | rs1064796547 |
ensembl | rs1064796547 |
geneview | rs1064796547 |
scholar | rs1064796547 |
rs1064796547 | |
pharmgkb | rs1064796547 |
gwascentral | rs1064796547 |
openSNP | rs1064796547 |
23andMe | rs1064796547 |
SNPshot | rs1064796547 |
SNPdbe | rs1064796547 |
MSV3d | rs1064796547 |
GWAS Ctlg | rs1064796547 |
Max Magnitude | 8.8 |
ClinVar | |
---|---|
Risk | rs1064796547(-;-) |
Alt | rs1064796547(-;-) |
Reference | Rs1064796547(T;T) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | SYNGAP1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000006.11:g.33411245delT |
CLNSRC | |
CLNACC | RCV000485030.1, |