rs780495441
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs780495441(C;T) |
Make rs780495441(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 189066461 |
Gene | COL5A2 |
is a | snp |
is | mentioned by |
dbSNP | rs780495441 |
dbSNP (classic) | rs780495441 |
ClinGen | rs780495441 |
ebi | rs780495441 |
HLI | rs780495441 |
Exac | rs780495441 |
Gnomad | rs780495441 |
Varsome | rs780495441 |
LitVar | rs780495441 |
Map | rs780495441 |
PheGenI | rs780495441 |
Biobank | rs780495441 |
1000 genomes | rs780495441 |
hgdp | rs780495441 |
ensembl | rs780495441 |
geneview | rs780495441 |
scholar | rs780495441 |
rs780495441 | |
pharmgkb | rs780495441 |
gwascentral | rs780495441 |
openSNP | rs780495441 |
23andMe | rs780495441 |
SNPshot | rs780495441 |
SNPdbe | rs780495441 |
MSV3d | rs780495441 |
GWAS Ctlg | rs780495441 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs780495441(T;T) |
Alt | rs780495441(T;T) |
Reference | Rs780495441(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | COL5A2 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.189931187C>T |
CLNSRC | |
CLNACC | RCV000198000.1, |