rs398122830
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TCT;TCT) | 0 | common in clinvar |
Make rs398122830(-;-) |
Make rs398122830(-;TCT) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 4900816 |
Gene | CHRNE, C17orf107 |
is a | snp |
is | mentioned by |
dbSNP | rs398122830 |
dbSNP (classic) | rs398122830 |
ClinGen | rs398122830 |
ebi | rs398122830 |
HLI | rs398122830 |
Exac | rs398122830 |
Gnomad | rs398122830 |
Varsome | rs398122830 |
LitVar | rs398122830 |
Map | rs398122830 |
PheGenI | rs398122830 |
Biobank | rs398122830 |
1000 genomes | rs398122830 |
hgdp | rs398122830 |
ensembl | rs398122830 |
geneview | rs398122830 |
scholar | rs398122830 |
rs398122830 | |
pharmgkb | rs398122830 |
gwascentral | rs398122830 |
openSNP | rs398122830 |
23andMe | rs398122830 |
SNPshot | rs398122830 |
SNPdbe | rs398122830 |
MSV3d | rs398122830 |
GWAS Ctlg | rs398122830 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122830(-;-) |
Alt | rs398122830(-;-) |
Reference | Rs398122830(TCT;TCT) |
Significance | Pathogenic |
Disease | Myasthenic syndrome |
Variation | info |
Gene | C17orf107 CHRNE |
CLNDBN | Myasthenic syndrome, congenital, 4a, slow-channel |
Reversed | 1 |
HGVS | NC_000017.10:g.4804111_4804113delAGA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000033234.29, |