rs587776703
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CT;CT) | 0 | common in clinvar |
Make rs587776703(-;-) |
Make rs587776703(-;CT) |
Reference | GRCh38 38.1/142 |
Chromosome | 12 |
Position | 51806642 |
Gene | SCN8A |
is a | snp |
is | mentioned by |
dbSNP | rs587776703 |
dbSNP (classic) | rs587776703 |
ClinGen | rs587776703 |
ebi | rs587776703 |
HLI | rs587776703 |
Exac | rs587776703 |
Gnomad | rs587776703 |
Varsome | rs587776703 |
LitVar | rs587776703 |
Map | rs587776703 |
PheGenI | rs587776703 |
Biobank | rs587776703 |
1000 genomes | rs587776703 |
hgdp | rs587776703 |
ensembl | rs587776703 |
geneview | rs587776703 |
scholar | rs587776703 |
rs587776703 | |
pharmgkb | rs587776703 |
gwascentral | rs587776703 |
openSNP | rs587776703 |
23andMe | rs587776703 |
SNPshot | rs587776703 |
SNPdbe | rs587776703 |
MSV3d | rs587776703 |
GWAS Ctlg | rs587776703 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776703(-;-) |
Alt | rs587776703(-;-) |
Reference | Rs587776703(CT;CT) |
Significance | Pathogenic |
Disease | Cognitive impairment with or without cerebellar ataxia |
Variation | info |
Gene | SCN8A |
CLNDBN | Cognitive impairment with or without cerebellar ataxia |
Reversed | 0 |
HGVS | NC_000012.11:g.52200426_52200427delCT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009467.8, |