rs794727788
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs794727788(A;A) |
Make rs794727788(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 21 |
Position | 46115882 |
Gene | COL6A2 |
is a | snp |
is | mentioned by |
dbSNP | rs794727788 |
dbSNP (classic) | rs794727788 |
ClinGen | rs794727788 |
ebi | rs794727788 |
HLI | rs794727788 |
Exac | rs794727788 |
Gnomad | rs794727788 |
Varsome | rs794727788 |
LitVar | rs794727788 |
Map | rs794727788 |
PheGenI | rs794727788 |
Biobank | rs794727788 |
1000 genomes | rs794727788 |
hgdp | rs794727788 |
ensembl | rs794727788 |
geneview | rs794727788 |
scholar | rs794727788 |
rs794727788 | |
pharmgkb | rs794727788 |
gwascentral | rs794727788 |
openSNP | rs794727788 |
23andMe | rs794727788 |
SNPshot | rs794727788 |
SNPdbe | rs794727788 |
MSV3d | rs794727788 |
GWAS Ctlg | rs794727788 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727788(A;A) |
Alt | rs794727788(A;A) |
Reference | Rs794727788(G;G) |
Significance | Pathogenic |
Disease | Bethlem myopathy 1 Ullrich congenital muscular dystrophy 1 |
Variation | info |
Gene | COL6A2 |
CLNDBN | Bethlem myopathy 1 Ullrich congenital muscular dystrophy 1 |
Reversed | 0 |
HGVS | NC_000021.8:g.47535796G>A |
CLNSRC | |
CLNACC | RCV000179390.1, RCV000179391.1, |