rs587777299
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587777299(C;T) |
Make rs587777299(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 1041582 |
Gene | AGRN |
is a | snp |
is | mentioned by |
dbSNP | rs587777299 |
dbSNP (classic) | rs587777299 |
ClinGen | rs587777299 |
ebi | rs587777299 |
HLI | rs587777299 |
Exac | rs587777299 |
Gnomad | rs587777299 |
Varsome | rs587777299 |
LitVar | rs587777299 |
Map | rs587777299 |
PheGenI | rs587777299 |
Biobank | rs587777299 |
1000 genomes | rs587777299 |
hgdp | rs587777299 |
ensembl | rs587777299 |
geneview | rs587777299 |
scholar | rs587777299 |
rs587777299 | |
pharmgkb | rs587777299 |
gwascentral | rs587777299 |
openSNP | rs587777299 |
23andMe | rs587777299 |
SNPshot | rs587777299 |
SNPdbe | rs587777299 |
MSV3d | rs587777299 |
GWAS Ctlg | rs587777299 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777299(T;T) |
Alt | rs587777299(T;T) |
Reference | Rs587777299(C;C) |
Significance | Pathogenic |
Disease | Myasthenic syndrome Congenital myasthenic syndrome |
Variation | info |
Gene | AGRN |
CLNDBN | Myasthenic syndrome, congenital, 8 Congenital myasthenic syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.976962C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000114428.4, RCV000235030.1, |