rs13013209
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | normal |
(C;G) | 0 | common with no known negative consequences |
Make rs13013209(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 151643935 |
Gene | NEB |
is a | snp |
is | mentioned by |
dbSNP | rs13013209 |
dbSNP (classic) | rs13013209 |
ClinGen | rs13013209 |
ebi | rs13013209 |
HLI | rs13013209 |
Exac | rs13013209 |
Gnomad | rs13013209 |
Varsome | rs13013209 |
LitVar | rs13013209 |
Map | rs13013209 |
PheGenI | rs13013209 |
Biobank | rs13013209 |
1000 genomes | rs13013209 |
hgdp | rs13013209 |
ensembl | rs13013209 |
geneview | rs13013209 |
scholar | rs13013209 |
rs13013209 | |
pharmgkb | rs13013209 |
gwascentral | rs13013209 |
openSNP | rs13013209 |
23andMe | rs13013209 |
SNPshot | rs13013209 |
SNPdbe | rs13013209 |
MSV3d | rs13013209 |
GWAS Ctlg | rs13013209 |
GMAF | 0.3012 |
Max Magnitude | 0 |
? | (C;C) (C;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs13013209(G;G) |
Alt | rs13013209(G;G) |
Reference | Rs13013209(C;C) |
Significance | Other |
Disease | not specified Nemaline Myopathy |
Variation | info |
Gene | NEB |
CLNDBN | not specified Nemaline Myopathy, Recessive |
Reversed | 0 |
HGVS | NC_000002.11:g.152500449C>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000081143.10, RCV000361795.1, |