rs886042883
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Chromosome | 2 |
Position | 237359205 |
Gene | COL6A3 |
is a | snp |
is | mentioned by |
dbSNP | rs886042883 |
dbSNP (classic) | rs886042883 |
ClinGen | rs886042883 |
ebi | rs886042883 |
HLI | rs886042883 |
Exac | rs886042883 |
Gnomad | rs886042883 |
Varsome | rs886042883 |
LitVar | rs886042883 |
Map | rs886042883 |
PheGenI | rs886042883 |
Biobank | rs886042883 |
1000 genomes | rs886042883 |
hgdp | rs886042883 |
ensembl | rs886042883 |
geneview | rs886042883 |
scholar | rs886042883 |
rs886042883 | |
pharmgkb | rs886042883 |
gwascentral | rs886042883 |
openSNP | rs886042883 |
23andMe | rs886042883 |
SNPshot | rs886042883 |
SNPdbe | rs886042883 |
MSV3d | rs886042883 |
GWAS Ctlg | rs886042883 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886042883(A;A) rs886042883(T;T) |
Alt | rs886042883(A;A) rs886042883(T;T) |
Reference | Rs886042883(C;C) |
Significance | Pathogenic |
Disease | Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1 |
Variation | info |
Gene | COL6A3 |
CLNDBN | Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1 |
Reversed | 0 |
HGVS | NC_000002.11:g.238267848C>A; NC_000002.11:g.238267848C>T |
CLNSRC | |
CLNACC | RCV000305531.1, RCV000319175.1, RCV000373756.1, |