rs777304794
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs777304794(-;-) |
Make rs777304794(-;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 237366707 |
Gene | COL6A3 |
is a | snp |
is | mentioned by |
dbSNP | rs777304794 |
dbSNP (classic) | rs777304794 |
ClinGen | rs777304794 |
ebi | rs777304794 |
HLI | rs777304794 |
Exac | rs777304794 |
Gnomad | rs777304794 |
Varsome | rs777304794 |
LitVar | rs777304794 |
Map | rs777304794 |
PheGenI | rs777304794 |
Biobank | rs777304794 |
1000 genomes | rs777304794 |
hgdp | rs777304794 |
ensembl | rs777304794 |
geneview | rs777304794 |
scholar | rs777304794 |
rs777304794 | |
pharmgkb | rs777304794 |
gwascentral | rs777304794 |
openSNP | rs777304794 |
23andMe | rs777304794 |
SNPshot | rs777304794 |
SNPdbe | rs777304794 |
MSV3d | rs777304794 |
GWAS Ctlg | rs777304794 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs777304794(-;-) |
Alt | rs777304794(-;-) |
Reference | Rs777304794(C;C) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | COL6A3 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.238275350delC |
CLNSRC | |
CLNACC | RCV000481370.1, |