rs886043919
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Chromosome | 2 |
Position | 237359361 |
Gene | COL6A3 |
is a | snp |
is | mentioned by |
dbSNP | rs886043919 |
dbSNP (classic) | rs886043919 |
ClinGen | rs886043919 |
ebi | rs886043919 |
HLI | rs886043919 |
Exac | rs886043919 |
Gnomad | rs886043919 |
Varsome | rs886043919 |
LitVar | rs886043919 |
Map | rs886043919 |
PheGenI | rs886043919 |
Biobank | rs886043919 |
1000 genomes | rs886043919 |
hgdp | rs886043919 |
ensembl | rs886043919 |
geneview | rs886043919 |
scholar | rs886043919 |
rs886043919 | |
pharmgkb | rs886043919 |
gwascentral | rs886043919 |
openSNP | rs886043919 |
23andMe | rs886043919 |
SNPshot | rs886043919 |
SNPdbe | rs886043919 |
MSV3d | rs886043919 |
GWAS Ctlg | rs886043919 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886043919(A;A) |
Alt | rs886043919(A;A) |
Reference | Rs886043919(C;C) |
Significance | Probable-Pathogenic |
Disease | Limb-girdle muscle weakness |
Variation | info |
Gene | COL6A3 |
CLNDBN | Limb-girdle muscle weakness |
Reversed | 0 |
HGVS | NC_000002.11:g.238268004C>A |
CLNSRC | |
CLNACC | RCV000337392.1, |