rs774115247
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs774115247(G;T) |
Make rs774115247(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 237354922 |
Gene | COL6A3 |
is a | snp |
is | mentioned by |
dbSNP | rs774115247 |
dbSNP (classic) | rs774115247 |
ClinGen | rs774115247 |
ebi | rs774115247 |
HLI | rs774115247 |
Exac | rs774115247 |
Gnomad | rs774115247 |
Varsome | rs774115247 |
LitVar | rs774115247 |
Map | rs774115247 |
PheGenI | rs774115247 |
Biobank | rs774115247 |
1000 genomes | rs774115247 |
hgdp | rs774115247 |
ensembl | rs774115247 |
geneview | rs774115247 |
scholar | rs774115247 |
rs774115247 | |
pharmgkb | rs774115247 |
gwascentral | rs774115247 |
openSNP | rs774115247 |
23andMe | rs774115247 |
SNPshot | rs774115247 |
SNPdbe | rs774115247 |
MSV3d | rs774115247 |
GWAS Ctlg | rs774115247 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs774115247(T;T) |
Alt | rs774115247(T;T) |
Reference | Rs774115247(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | COL6A3 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.238263565G>A |
CLNSRC | |
CLNACC | RCV000493437.1, |