rs863223284
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs863223284(-;T) |
Make rs863223284(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 94600798 |
Gene | CASD1, SGCE |
is a | snp |
is | mentioned by |
dbSNP | rs863223284 |
dbSNP (classic) | rs863223284 |
ClinGen | rs863223284 |
ebi | rs863223284 |
HLI | rs863223284 |
Exac | rs863223284 |
Gnomad | rs863223284 |
Varsome | rs863223284 |
LitVar | rs863223284 |
Map | rs863223284 |
PheGenI | rs863223284 |
Biobank | rs863223284 |
1000 genomes | rs863223284 |
hgdp | rs863223284 |
ensembl | rs863223284 |
geneview | rs863223284 |
scholar | rs863223284 |
rs863223284 | |
pharmgkb | rs863223284 |
gwascentral | rs863223284 |
openSNP | rs863223284 |
23andMe | rs863223284 |
SNPshot | rs863223284 |
SNPdbe | rs863223284 |
MSV3d | rs863223284 |
GWAS Ctlg | rs863223284 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863223284(T;T) |
Alt | rs863223284(T;T) |
Reference | Rs863223284(-;-) |
Significance | Pathogenic |
Disease | Myoclonic dystonia |
Variation | info |
Gene | SGCE |
CLNDBN | Myoclonic dystonia |
Reversed | 1 |
HGVS | NC_000007.13:g.94230111dupA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006130.4, |