rs137852798
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs137852798(C;G) |
Make rs137852798(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 174753570 |
Gene | CHRNA1 |
is a | snp |
is | mentioned by |
dbSNP | rs137852798 |
dbSNP (classic) | rs137852798 |
ClinGen | rs137852798 |
ebi | rs137852798 |
HLI | rs137852798 |
Exac | rs137852798 |
Gnomad | rs137852798 |
Varsome | rs137852798 |
LitVar | rs137852798 |
Map | rs137852798 |
PheGenI | rs137852798 |
Biobank | rs137852798 |
1000 genomes | rs137852798 |
hgdp | rs137852798 |
ensembl | rs137852798 |
geneview | rs137852798 |
scholar | rs137852798 |
rs137852798 | |
pharmgkb | rs137852798 |
gwascentral | rs137852798 |
openSNP | rs137852798 |
23andMe | rs137852798 |
SNPshot | rs137852798 |
SNPdbe | rs137852798 |
MSV3d | rs137852798 |
GWAS Ctlg | rs137852798 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137852798(G;G) rs137852798(T;T) |
Alt | rs137852798(G;G) rs137852798(T;T) |
Reference | Rs137852798(C;C) |
Significance | Pathogenic |
Disease | Myasthenic syndrome |
Variation | info |
Gene | CHRNA1 |
CLNDBN | Myasthenic syndrome, slow-channel congenital |
Reversed | 1 |
HGVS | NC_000002.11:g.175618298G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000020044.29, |