rs483353046
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs483353046(A;A) |
Make rs483353046(A;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 174753544 |
Gene | CHRNA1 |
is a | snp |
is | mentioned by |
dbSNP | rs483353046 |
dbSNP (classic) | rs483353046 |
ClinGen | rs483353046 |
ebi | rs483353046 |
HLI | rs483353046 |
Exac | rs483353046 |
Gnomad | rs483353046 |
Varsome | rs483353046 |
LitVar | rs483353046 |
Map | rs483353046 |
PheGenI | rs483353046 |
Biobank | rs483353046 |
1000 genomes | rs483353046 |
hgdp | rs483353046 |
ensembl | rs483353046 |
geneview | rs483353046 |
scholar | rs483353046 |
rs483353046 | |
pharmgkb | rs483353046 |
gwascentral | rs483353046 |
openSNP | rs483353046 |
23andMe | rs483353046 |
SNPshot | rs483353046 |
SNPdbe | rs483353046 |
MSV3d | rs483353046 |
GWAS Ctlg | rs483353046 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs483353046(A;A) rs483353046(T;T) |
Alt | rs483353046(A;A) rs483353046(T;T) |
Reference | Rs483353046(C;C) |
Significance | Pathogenic |
Disease | Myasthenic syndrome |
Variation | info |
Gene | CHRNA1 |
CLNDBN | Myasthenic syndrome, slow-channel congenital |
Reversed | 1 |
HGVS | NC_000002.11:g.175618272G>A; NC_000002.11:g.175618272G>T |
CLNSRC | ClinVar |
CLNACC | RCV000122733.3, RCV000122732.3, |