rs794727884
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs794727884(-;-) |
Make rs794727884(-;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 4 |
Position | 3492943 |
Gene | DOK7 |
is a | snp |
is | mentioned by |
dbSNP | rs794727884 |
dbSNP (classic) | rs794727884 |
ClinGen | rs794727884 |
ebi | rs794727884 |
HLI | rs794727884 |
Exac | rs794727884 |
Gnomad | rs794727884 |
Varsome | rs794727884 |
LitVar | rs794727884 |
Map | rs794727884 |
PheGenI | rs794727884 |
Biobank | rs794727884 |
1000 genomes | rs794727884 |
hgdp | rs794727884 |
ensembl | rs794727884 |
geneview | rs794727884 |
scholar | rs794727884 |
rs794727884 | |
pharmgkb | rs794727884 |
gwascentral | rs794727884 |
openSNP | rs794727884 |
23andMe | rs794727884 |
SNPshot | rs794727884 |
SNPdbe | rs794727884 |
MSV3d | rs794727884 |
GWAS Ctlg | rs794727884 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727884(-;-) |
Alt | rs794727884(-;-) |
Reference | Rs794727884(C;C) |
Significance | Pathogenic |
Disease | Myasthenia |
Variation | info |
Gene | DOK7 |
CLNDBN | Myasthenia, limb-girdle, familial |
Reversed | 0 |
HGVS | NC_000004.11:g.3494670delC |
CLNSRC | |
CLNACC | RCV000180012.1, |