rs367570129
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs367570129(A;A) |
Make rs367570129(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 95027239 |
Gene | ALG14 |
is a | snp |
is | mentioned by |
dbSNP | rs367570129 |
dbSNP (classic) | rs367570129 |
ClinGen | rs367570129 |
ebi | rs367570129 |
HLI | rs367570129 |
Exac | rs367570129 |
Gnomad | rs367570129 |
Varsome | rs367570129 |
LitVar | rs367570129 |
Map | rs367570129 |
PheGenI | rs367570129 |
Biobank | rs367570129 |
1000 genomes | rs367570129 |
hgdp | rs367570129 |
ensembl | rs367570129 |
geneview | rs367570129 |
scholar | rs367570129 |
rs367570129 | |
pharmgkb | rs367570129 |
gwascentral | rs367570129 |
openSNP | rs367570129 |
23andMe | rs367570129 |
SNPshot | rs367570129 |
SNPdbe | rs367570129 |
MSV3d | rs367570129 |
GWAS Ctlg | rs367570129 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs367570129(A;A) |
Alt | rs367570129(A;A) |
Reference | Rs367570129(G;G) |
Significance | Pathogenic |
Disease | Myasthenic syndrome |
Variation | info |
Gene | ALG14 |
CLNDBN | Myasthenic syndrome, congenital, 15 |
Reversed | 0 |
HGVS | NC_000001.10:g.95492795G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000161137.5, |