rs398124126
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs398124126(A;A) |
Make rs398124126(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 237361120 |
Gene | COL6A3 |
is a | snp |
is | mentioned by |
dbSNP | rs398124126 |
dbSNP (classic) | rs398124126 |
ClinGen | rs398124126 |
ebi | rs398124126 |
HLI | rs398124126 |
Exac | rs398124126 |
Gnomad | rs398124126 |
Varsome | rs398124126 |
LitVar | rs398124126 |
Map | rs398124126 |
PheGenI | rs398124126 |
Biobank | rs398124126 |
1000 genomes | rs398124126 |
hgdp | rs398124126 |
ensembl | rs398124126 |
geneview | rs398124126 |
scholar | rs398124126 |
rs398124126 | |
pharmgkb | rs398124126 |
gwascentral | rs398124126 |
openSNP | rs398124126 |
23andMe | rs398124126 |
SNPshot | rs398124126 |
SNPdbe | rs398124126 |
MSV3d | rs398124126 |
GWAS Ctlg | rs398124126 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124126(A;A) |
Alt | rs398124126(A;A) |
Reference | Rs398124126(G;G) |
Significance | Pathogenic |
Disease | not provided Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1 |
Variation | info |
Gene | COL6A3 |
CLNDBN | not provided Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1 |
Reversed | 1 |
HGVS | NC_000002.11:g.238269763C>T |
CLNSRC | HGMD |
CLNACC | RCV000080961.3, RCV000175056.1, RCV000355308.1, |