rs559933584
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs559933584(A;A) |
Make rs559933584(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 47441875 |
Gene | RAPSN |
is a | snp |
is | mentioned by |
dbSNP | rs559933584 |
dbSNP (classic) | rs559933584 |
ClinGen | rs559933584 |
ebi | rs559933584 |
HLI | rs559933584 |
Exac | rs559933584 |
Gnomad | rs559933584 |
Varsome | rs559933584 |
LitVar | rs559933584 |
Map | rs559933584 |
PheGenI | rs559933584 |
Biobank | rs559933584 |
1000 genomes | rs559933584 |
hgdp | rs559933584 |
ensembl | rs559933584 |
geneview | rs559933584 |
scholar | rs559933584 |
rs559933584 | |
pharmgkb | rs559933584 |
gwascentral | rs559933584 |
openSNP | rs559933584 |
23andMe | rs559933584 |
SNPshot | rs559933584 |
SNPdbe | rs559933584 |
MSV3d | rs559933584 |
GWAS Ctlg | rs559933584 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs559933584(A;A) |
Alt | rs559933584(A;A) |
Reference | Rs559933584(G;G) |
Significance | Probable-Pathogenic |
Disease | Myasthenic syndrome |
Variation | info |
Gene | RAPSN |
CLNDBN | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency |
Reversed | 0 |
HGVS | NC_000011.9:g.47463427G>A |
CLNSRC | |
CLNACC | RCV000178236.1, |