rs879253788
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs879253788(-;C) |
Make rs879253788(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 1042140 |
Gene | AGRN |
is a | snp |
is | mentioned by |
dbSNP | rs879253788 |
dbSNP (classic) | rs879253788 |
ClinGen | rs879253788 |
ebi | rs879253788 |
HLI | rs879253788 |
Exac | rs879253788 |
Gnomad | rs879253788 |
Varsome | rs879253788 |
LitVar | rs879253788 |
Map | rs879253788 |
PheGenI | rs879253788 |
Biobank | rs879253788 |
1000 genomes | rs879253788 |
hgdp | rs879253788 |
ensembl | rs879253788 |
geneview | rs879253788 |
scholar | rs879253788 |
rs879253788 | |
pharmgkb | rs879253788 |
gwascentral | rs879253788 |
openSNP | rs879253788 |
23andMe | rs879253788 |
SNPshot | rs879253788 |
SNPdbe | rs879253788 |
MSV3d | rs879253788 |
GWAS Ctlg | rs879253788 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879253788(C;C) |
Alt | rs879253788(C;C) |
Reference | Rs879253788(-;-) |
Significance | Pathogenic |
Disease | Congenital myasthenic syndrome |
Variation | info |
Gene | AGRN |
CLNDBN | Congenital myasthenic syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.977520dupC |
CLNSRC | |
CLNACC | RCV000235036.1, |