rs767517186
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs767517186(C;G) |
Make rs767517186(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 237334890 |
Gene | COL6A3 |
is a | snp |
is | mentioned by |
dbSNP | rs767517186 |
dbSNP (classic) | rs767517186 |
ClinGen | rs767517186 |
ebi | rs767517186 |
HLI | rs767517186 |
Exac | rs767517186 |
Gnomad | rs767517186 |
Varsome | rs767517186 |
LitVar | rs767517186 |
Map | rs767517186 |
PheGenI | rs767517186 |
Biobank | rs767517186 |
1000 genomes | rs767517186 |
hgdp | rs767517186 |
ensembl | rs767517186 |
geneview | rs767517186 |
scholar | rs767517186 |
rs767517186 | |
pharmgkb | rs767517186 |
gwascentral | rs767517186 |
openSNP | rs767517186 |
23andMe | rs767517186 |
SNPshot | rs767517186 |
SNPdbe | rs767517186 |
MSV3d | rs767517186 |
GWAS Ctlg | rs767517186 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs767517186(G;G) |
Alt | rs767517186(G;G) |
Reference | Rs767517186(C;C) |
Significance | Pathogenic |
Disease | Dystonia 27 |
Variation | info |
Gene | COL6A3 |
CLNDBN | Dystonia 27 |
Reversed | 0 |
HGVS | NC_000002.11:g.238243533C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000172851.2, |