rs199476396
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199476396(C;C) |
Make rs199476396(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 1050575 |
Gene | AGRN |
is a | snp |
is | mentioned by |
dbSNP | rs199476396 |
dbSNP (classic) | rs199476396 |
ClinGen | rs199476396 |
ebi | rs199476396 |
HLI | rs199476396 |
Exac | rs199476396 |
Gnomad | rs199476396 |
Varsome | rs199476396 |
LitVar | rs199476396 |
Map | rs199476396 |
PheGenI | rs199476396 |
Biobank | rs199476396 |
1000 genomes | rs199476396 |
hgdp | rs199476396 |
ensembl | rs199476396 |
geneview | rs199476396 |
scholar | rs199476396 |
rs199476396 | |
pharmgkb | rs199476396 |
gwascentral | rs199476396 |
openSNP | rs199476396 |
23andMe | rs199476396 |
SNPshot | rs199476396 |
SNPdbe | rs199476396 |
MSV3d | rs199476396 |
GWAS Ctlg | rs199476396 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199476396(C;C) |
Alt | rs199476396(C;C) |
Reference | Rs199476396(G;G) |
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.985955G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000019902.30, RCV000235029.1, |