rs756623659
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs756623659(A;A) |
Make rs756623659(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 1022225 |
Gene | AGRN |
is a | snp |
is | mentioned by |
dbSNP | rs756623659 |
dbSNP (classic) | rs756623659 |
ClinGen | rs756623659 |
ebi | rs756623659 |
HLI | rs756623659 |
Exac | rs756623659 |
Gnomad | rs756623659 |
Varsome | rs756623659 |
LitVar | rs756623659 |
Map | rs756623659 |
PheGenI | rs756623659 |
Biobank | rs756623659 |
1000 genomes | rs756623659 |
hgdp | rs756623659 |
ensembl | rs756623659 |
geneview | rs756623659 |
scholar | rs756623659 |
rs756623659 | |
pharmgkb | rs756623659 |
gwascentral | rs756623659 |
openSNP | rs756623659 |
23andMe | rs756623659 |
SNPshot | rs756623659 |
SNPdbe | rs756623659 |
MSV3d | rs756623659 |
GWAS Ctlg | rs756623659 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs756623659(A;A) |
Alt | rs756623659(A;A) |
Reference | Rs756623659(G;G) |
Significance | Pathogenic |
Disease | Congenital myasthenic syndrome |
Variation | info |
Gene | AGRN |
CLNDBN | Congenital myasthenic syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.957605G>A |
CLNSRC | |
CLNACC | RCV000235037.1, |