rs875989808
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs875989808(C;T) |
Make rs875989808(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 33444529 |
Gene | SYNGAP1 |
is a | snp |
is | mentioned by |
dbSNP | rs875989808 |
dbSNP (classic) | rs875989808 |
ClinGen | rs875989808 |
ebi | rs875989808 |
HLI | rs875989808 |
Exac | rs875989808 |
Gnomad | rs875989808 |
Varsome | rs875989808 |
LitVar | rs875989808 |
Map | rs875989808 |
PheGenI | rs875989808 |
Biobank | rs875989808 |
1000 genomes | rs875989808 |
hgdp | rs875989808 |
ensembl | rs875989808 |
geneview | rs875989808 |
scholar | rs875989808 |
rs875989808 | |
pharmgkb | rs875989808 |
gwascentral | rs875989808 |
openSNP | rs875989808 |
23andMe | rs875989808 |
SNPshot | rs875989808 |
SNPdbe | rs875989808 |
MSV3d | rs875989808 |
GWAS Ctlg | rs875989808 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs875989808(T;T) |
Alt | rs875989808(T;T) |
Reference | Rs875989808(C;C) |
Significance | Probable-Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | SYNGAP1 |
CLNDBN | Mental retardation, autosomal dominant 5 |
Reversed | 0 |
HGVS | NC_000006.11:g.33412306C>T |
CLNSRC | |
CLNACC | RCV000211105.1, |