rs758124326
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs758124326(C;T) |
Make rs758124326(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 237361156 |
Gene | COL6A3 |
is a | snp |
is | mentioned by |
dbSNP | rs758124326 |
dbSNP (classic) | rs758124326 |
ClinGen | rs758124326 |
ebi | rs758124326 |
HLI | rs758124326 |
Exac | rs758124326 |
Gnomad | rs758124326 |
Varsome | rs758124326 |
LitVar | rs758124326 |
Map | rs758124326 |
PheGenI | rs758124326 |
Biobank | rs758124326 |
1000 genomes | rs758124326 |
hgdp | rs758124326 |
ensembl | rs758124326 |
geneview | rs758124326 |
scholar | rs758124326 |
rs758124326 | |
pharmgkb | rs758124326 |
gwascentral | rs758124326 |
openSNP | rs758124326 |
23andMe | rs758124326 |
SNPshot | rs758124326 |
SNPdbe | rs758124326 |
MSV3d | rs758124326 |
GWAS Ctlg | rs758124326 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs758124326(A;A) rs758124326(T;T) |
Alt | rs758124326(A;A) rs758124326(T;T) |
Reference | Rs758124326(C;C) |
Significance | Pathogenic |
Disease | Bethlem myopathy 1 |
Variation | info |
Gene | COL6A3 |
CLNDBN | Bethlem myopathy 1 |
Reversed | 0 |
HGVS | NC_000002.11:g.238269799C>A |
CLNSRC | |
CLNACC | RCV000306136.1, |