rs879255534
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs879255534(-;-) |
Make rs879255534(-;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 50721764 |
Gene | SHANK3 |
is a | snp |
is | mentioned by |
dbSNP | rs879255534 |
dbSNP (classic) | rs879255534 |
ClinGen | rs879255534 |
ebi | rs879255534 |
HLI | rs879255534 |
Exac | rs879255534 |
Gnomad | rs879255534 |
Varsome | rs879255534 |
LitVar | rs879255534 |
Map | rs879255534 |
PheGenI | rs879255534 |
Biobank | rs879255534 |
1000 genomes | rs879255534 |
hgdp | rs879255534 |
ensembl | rs879255534 |
geneview | rs879255534 |
scholar | rs879255534 |
rs879255534 | |
pharmgkb | rs879255534 |
gwascentral | rs879255534 |
openSNP | rs879255534 |
23andMe | rs879255534 |
SNPshot | rs879255534 |
SNPdbe | rs879255534 |
MSV3d | rs879255534 |
GWAS Ctlg | rs879255534 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs879255534(G;G) |
Significance | Pathogenic |
Disease | 22q13.3 deletion syndrome |
Variation | info |
Gene | SHANK3 |
CLNDBN | 22q13.3 deletion syndrome |
Reversed | 0 |
HGVS | NC_000022.10:g.51160192delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000043653.4, |