rs145955590
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs145955590(A;A) |
Make rs145955590(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 232534087 |
Gene | CHRND |
is a | snp |
is | mentioned by |
dbSNP | rs145955590 |
dbSNP (classic) | rs145955590 |
ClinGen | rs145955590 |
ebi | rs145955590 |
HLI | rs145955590 |
Exac | rs145955590 |
Gnomad | rs145955590 |
Varsome | rs145955590 |
LitVar | rs145955590 |
Map | rs145955590 |
PheGenI | rs145955590 |
Biobank | rs145955590 |
1000 genomes | rs145955590 |
hgdp | rs145955590 |
ensembl | rs145955590 |
geneview | rs145955590 |
scholar | rs145955590 |
rs145955590 | |
pharmgkb | rs145955590 |
gwascentral | rs145955590 |
openSNP | rs145955590 |
23andMe | rs145955590 |
SNPshot | rs145955590 |
SNPdbe | rs145955590 |
MSV3d | rs145955590 |
GWAS Ctlg | rs145955590 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs145955590(A;A) rs145955590(C;C) |
Alt | rs145955590(A;A) rs145955590(C;C) |
Reference | Rs145955590(G;G) |
Significance | Pathogenic |
Disease | Myasthenic syndrome |
Variation | info |
Gene | CHRND |
CLNDBN | Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency |
Reversed | 0 |
HGVS | NC_000002.11:g.233398797G>A |
CLNSRC | Leiden Muscular Dystrophy pages (CHRND) OMIM Allelic Variant |
CLNACC | RCV000170317.4, |