rs878853150
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs878853150(-;CCGTGGGCAGCCCCGG) |
Make rs878853150(CCGTGGGCAGCCCCGG;CCGTGGGCAGCCCCGG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 50720757 |
Gene | SHANK3 |
is a | snp |
is | mentioned by |
dbSNP | rs878853150 |
dbSNP (classic) | rs878853150 |
ClinGen | rs878853150 |
ebi | rs878853150 |
HLI | rs878853150 |
Exac | rs878853150 |
Gnomad | rs878853150 |
Varsome | rs878853150 |
LitVar | rs878853150 |
Map | rs878853150 |
PheGenI | rs878853150 |
Biobank | rs878853150 |
1000 genomes | rs878853150 |
hgdp | rs878853150 |
ensembl | rs878853150 |
geneview | rs878853150 |
scholar | rs878853150 |
rs878853150 | |
pharmgkb | rs878853150 |
gwascentral | rs878853150 |
openSNP | rs878853150 |
23andMe | rs878853150 |
SNPshot | rs878853150 |
SNPdbe | rs878853150 |
MSV3d | rs878853150 |
GWAS Ctlg | rs878853150 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878853150(GGCCGTGGGCAGCCCC;GGCCGTGGGCAGCCCC) |
Alt | rs878853150(GGCCGTGGGCAGCCCC;GGCCGTGGGCAGCCCC) |
Reference | Rs878853150(-;-) |
Significance | Pathogenic |
Disease | Intellectual disability |
Variation | info |
Gene | SHANK3 |
CLNDBN | Intellectual disability |
Reversed | 0 |
HGVS | NC_000022.10:g.51159170_51159185dup16 |
CLNSRC | |
CLNACC | RCV000224952.1, |