rs182976977
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs182976977(C;C) |
Make rs182976977(C;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 237333533 |
Gene | COL6A3 |
is a | snp |
is | mentioned by |
dbSNP | rs182976977 |
dbSNP (classic) | rs182976977 |
ClinGen | rs182976977 |
ebi | rs182976977 |
HLI | rs182976977 |
Exac | rs182976977 |
Gnomad | rs182976977 |
Varsome | rs182976977 |
LitVar | rs182976977 |
Map | rs182976977 |
PheGenI | rs182976977 |
Biobank | rs182976977 |
1000 genomes | rs182976977 |
hgdp | rs182976977 |
ensembl | rs182976977 |
geneview | rs182976977 |
scholar | rs182976977 |
rs182976977 | |
pharmgkb | rs182976977 |
gwascentral | rs182976977 |
openSNP | rs182976977 |
23andMe | rs182976977 |
SNPshot | rs182976977 |
SNPdbe | rs182976977 |
MSV3d | rs182976977 |
GWAS Ctlg | rs182976977 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs182976977(A;A) rs182976977(C;C) |
Alt | rs182976977(A;A) rs182976977(C;C) |
Reference | Rs182976977(G;G) |
Significance | Pathogenic |
Disease | Dystonia 27 not specified Collagen VI-related myopathy |
Variation | info |
Gene | COL6A3 |
CLNDBN | Dystonia 27 not specified Collagen VI-related myopathy |
Reversed | 0 |
HGVS | NC_000002.11:g.238242176G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000172850.2, RCV000272249.2, RCV000403938.1, |