rs869312955
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 8.8 | Mental retardation, type 5; SYNGAP1-related |
Make rs869312955(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 33446710 |
Gene | SYNGAP1 |
is a | snp |
is | mentioned by |
dbSNP | rs869312955 |
dbSNP (classic) | rs869312955 |
ClinGen | rs869312955 |
ebi | rs869312955 |
HLI | rs869312955 |
Exac | rs869312955 |
Gnomad | rs869312955 |
Varsome | rs869312955 |
LitVar | rs869312955 |
Map | rs869312955 |
PheGenI | rs869312955 |
Biobank | rs869312955 |
1000 genomes | rs869312955 |
hgdp | rs869312955 |
ensembl | rs869312955 |
geneview | rs869312955 |
scholar | rs869312955 |
rs869312955 | |
pharmgkb | rs869312955 |
gwascentral | rs869312955 |
openSNP | rs869312955 |
23andMe | rs869312955 |
SNPshot | rs869312955 |
SNPdbe | rs869312955 |
MSV3d | rs869312955 |
GWAS Ctlg | rs869312955 |
Max Magnitude | 8.8 |
ClinVar | |
---|---|
Risk | rs869312955(T;T) |
Alt | rs869312955(T;T) |
Reference | Rs869312955(C;C) |
Significance | Pathogenic |
Disease | Inborn genetic diseases |
Variation | info |
Gene | SYNGAP1 |
CLNDBN | Inborn genetic diseases |
Reversed | 0 |
HGVS | NC_000006.11:g.33414487C>T |
CLNSRC | |
CLNACC | RCV000210697.1, |