rs764160563
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs764160563(A;A) |
Make rs764160563(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 1050473 |
Gene | AGRN |
is a | snp |
is | mentioned by |
dbSNP | rs764160563 |
dbSNP (classic) | rs764160563 |
ClinGen | rs764160563 |
ebi | rs764160563 |
HLI | rs764160563 |
Exac | rs764160563 |
Gnomad | rs764160563 |
Varsome | rs764160563 |
LitVar | rs764160563 |
Map | rs764160563 |
PheGenI | rs764160563 |
Biobank | rs764160563 |
1000 genomes | rs764160563 |
hgdp | rs764160563 |
ensembl | rs764160563 |
geneview | rs764160563 |
scholar | rs764160563 |
rs764160563 | |
pharmgkb | rs764160563 |
gwascentral | rs764160563 |
openSNP | rs764160563 |
23andMe | rs764160563 |
SNPshot | rs764160563 |
SNPdbe | rs764160563 |
MSV3d | rs764160563 |
GWAS Ctlg | rs764160563 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs764160563(A;A) |
Alt | rs764160563(A;A) |
Reference | Rs764160563(G;G) |
Significance | Pathogenic |
Disease | Congenital myasthenic syndrome |
Variation | info |
Gene | AGRN |
CLNDBN | Congenital myasthenic syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.985853G>A |
CLNSRC | |
CLNACC | RCV000235025.1, |