rs121908492
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121908492(C;T) |
Make rs121908492(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 94598914 |
Gene | CASD1, SGCE |
is a | snp |
is | mentioned by |
dbSNP | rs121908492 |
dbSNP (classic) | rs121908492 |
ClinGen | rs121908492 |
ebi | rs121908492 |
HLI | rs121908492 |
Exac | rs121908492 |
Gnomad | rs121908492 |
Varsome | rs121908492 |
LitVar | rs121908492 |
Map | rs121908492 |
PheGenI | rs121908492 |
Biobank | rs121908492 |
1000 genomes | rs121908492 |
hgdp | rs121908492 |
ensembl | rs121908492 |
geneview | rs121908492 |
scholar | rs121908492 |
rs121908492 | |
pharmgkb | rs121908492 |
gwascentral | rs121908492 |
openSNP | rs121908492 |
23andMe | rs121908492 |
SNPshot | rs121908492 |
SNPdbe | rs121908492 |
MSV3d | rs121908492 |
GWAS Ctlg | rs121908492 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908492(T;T) |
Alt | rs121908492(T;T) |
Reference | Rs121908492(C;C) |
Significance | Pathogenic |
Disease | Myoclonic dystonia |
Variation | info |
Gene | SGCE |
CLNDBN | Myoclonic dystonia |
Reversed | 1 |
HGVS | NC_000007.13:g.94228226G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006132.3, |