rs886043147
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCA;GCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCA) | 0 | common in clinvar |
Chromosome | 21 |
Position | 45984356 |
Gene | COL6A1 |
is a | snp |
is | mentioned by |
dbSNP | rs886043147 |
dbSNP (classic) | rs886043147 |
ClinGen | rs886043147 |
ebi | rs886043147 |
HLI | rs886043147 |
Exac | rs886043147 |
Gnomad | rs886043147 |
Varsome | rs886043147 |
LitVar | rs886043147 |
Map | rs886043147 |
PheGenI | rs886043147 |
Biobank | rs886043147 |
1000 genomes | rs886043147 |
hgdp | rs886043147 |
ensembl | rs886043147 |
geneview | rs886043147 |
scholar | rs886043147 |
rs886043147 | |
pharmgkb | rs886043147 |
gwascentral | rs886043147 |
openSNP | rs886043147 |
23andMe | rs886043147 |
SNPshot | rs886043147 |
SNPdbe | rs886043147 |
MSV3d | rs886043147 |
GWAS Ctlg | rs886043147 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886043147(-;-) |
Alt | rs886043147(-;-) |
Reference | Rs886043147(GCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCA;GCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCA) |
Significance | Pathogenic |
Disease | Ullrich congenital muscular dystrophy 1 |
Variation | info |
Gene | COL6A1 |
CLNDBN | Ullrich congenital muscular dystrophy 1 |
Reversed | 0 |
HGVS | NC_000021.8:g.47404270_47404304delCATGCCTGGCGGCCGCGACGCACTCAAAAGCAGCG |
CLNSRC | |
CLNACC | RCV000276636.1, |