rs779614415
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs779614415(C;G) |
Make rs779614415(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 189066772 |
Gene | COL5A2 |
is a | snp |
is | mentioned by |
dbSNP | rs779614415 |
dbSNP (classic) | rs779614415 |
ClinGen | rs779614415 |
ebi | rs779614415 |
HLI | rs779614415 |
Exac | rs779614415 |
Gnomad | rs779614415 |
Varsome | rs779614415 |
LitVar | rs779614415 |
Map | rs779614415 |
PheGenI | rs779614415 |
Biobank | rs779614415 |
1000 genomes | rs779614415 |
hgdp | rs779614415 |
ensembl | rs779614415 |
geneview | rs779614415 |
scholar | rs779614415 |
rs779614415 | |
pharmgkb | rs779614415 |
gwascentral | rs779614415 |
openSNP | rs779614415 |
23andMe | rs779614415 |
SNPshot | rs779614415 |
SNPdbe | rs779614415 |
MSV3d | rs779614415 |
GWAS Ctlg | rs779614415 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs779614415(G;G) |
Alt | rs779614415(G;G) |
Reference | Rs779614415(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | COL5A2 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.189931498C>G |
CLNSRC | |
CLNACC | RCV000494214.1, |