rs797046030
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 rs797046030(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 33446584 |
Gene | SYNGAP1 |
is a | snp |
is | mentioned by |
dbSNP | rs797046030 |
dbSNP (classic) | rs797046030 |
ClinGen | rs797046030 |
ebi | rs797046030 |
HLI | rs797046030 |
Exac | rs797046030 |
Gnomad | rs797046030 |
Varsome | rs797046030 |
LitVar | rs797046030 |
Map | rs797046030 |
PheGenI | rs797046030 |
Biobank | rs797046030 |
1000 genomes | rs797046030 |
hgdp | rs797046030 |
ensembl | rs797046030 |
geneview | rs797046030 |
scholar | rs797046030 |
rs797046030 | |
pharmgkb | rs797046030 |
gwascentral | rs797046030 |
openSNP | rs797046030 |
23andMe | rs797046030 |
SNPshot | rs797046030 |
SNPdbe | rs797046030 |
MSV3d | rs797046030 |
GWAS Ctlg | rs797046030 |
Max Magnitude | 8.8 |
ClinVar | |
---|---|
Risk | rs797046030(-;-) |
Alt | rs797046030(-;-) |
Reference | Rs797046030(T;T) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | SYNGAP1 |
CLNDBN | Mental retardation, autosomal dominant 5 |
Reversed | 0 |
HGVS | NC_000006.11:g.33414361delT |
CLNSRC | |
CLNACC | RCV000194044.1, |