rs786205152
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs786205152(A;A) |
Make rs786205152(A;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 20 |
Position | 10292918 |
Gene | SNAP25 |
is a | snp |
is | mentioned by |
dbSNP | rs786205152 |
dbSNP (classic) | rs786205152 |
ClinGen | rs786205152 |
ebi | rs786205152 |
HLI | rs786205152 |
Exac | rs786205152 |
Gnomad | rs786205152 |
Varsome | rs786205152 |
LitVar | rs786205152 |
Map | rs786205152 |
PheGenI | rs786205152 |
Biobank | rs786205152 |
1000 genomes | rs786205152 |
hgdp | rs786205152 |
ensembl | rs786205152 |
geneview | rs786205152 |
scholar | rs786205152 |
rs786205152 | |
pharmgkb | rs786205152 |
gwascentral | rs786205152 |
openSNP | rs786205152 |
23andMe | rs786205152 |
SNPshot | rs786205152 |
SNPdbe | rs786205152 |
MSV3d | rs786205152 |
GWAS Ctlg | rs786205152 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205152(A;A) |
Alt | rs786205152(A;A) |
Reference | Rs786205152(T;T) |
Significance | Pathogenic |
Disease | Myasthenic syndrome |
Variation | info |
Gene | SNAP25 |
CLNDBN | Myasthenic syndrome, congenital, 18 |
Reversed | 0 |
HGVS | NC_000020.10:g.10273566T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000170319.3, |