rs886043113
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Chromosome | 2 |
Position | 237347812 |
Gene | COL6A3 |
is a | snp |
is | mentioned by |
dbSNP | rs886043113 |
dbSNP (classic) | rs886043113 |
ClinGen | rs886043113 |
ebi | rs886043113 |
HLI | rs886043113 |
Exac | rs886043113 |
Gnomad | rs886043113 |
Varsome | rs886043113 |
LitVar | rs886043113 |
Map | rs886043113 |
PheGenI | rs886043113 |
Biobank | rs886043113 |
1000 genomes | rs886043113 |
hgdp | rs886043113 |
ensembl | rs886043113 |
geneview | rs886043113 |
scholar | rs886043113 |
rs886043113 | |
pharmgkb | rs886043113 |
gwascentral | rs886043113 |
openSNP | rs886043113 |
23andMe | rs886043113 |
SNPshot | rs886043113 |
SNPdbe | rs886043113 |
MSV3d | rs886043113 |
GWAS Ctlg | rs886043113 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886043113(A;A) |
Alt | rs886043113(A;A) |
Reference | Rs886043113(G;G) |
Significance | Pathogenic |
Disease | Ullrich congenital muscular dystrophy 1 not provided |
Variation | info |
Gene | COL6A3 |
CLNDBN | Ullrich congenital muscular dystrophy 1 not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.238256455G>A |
CLNSRC | |
CLNACC | RCV000359013.1, RCV000432500.1, |