rs779153546
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs779153546(C;T) |
Make rs779153546(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 189098753 |
Gene | COL5A2 |
is a | snp |
is | mentioned by |
dbSNP | rs779153546 |
dbSNP (classic) | rs779153546 |
ClinGen | rs779153546 |
ebi | rs779153546 |
HLI | rs779153546 |
Exac | rs779153546 |
Gnomad | rs779153546 |
Varsome | rs779153546 |
LitVar | rs779153546 |
Map | rs779153546 |
PheGenI | rs779153546 |
Biobank | rs779153546 |
1000 genomes | rs779153546 |
hgdp | rs779153546 |
ensembl | rs779153546 |
geneview | rs779153546 |
scholar | rs779153546 |
rs779153546 | |
pharmgkb | rs779153546 |
gwascentral | rs779153546 |
openSNP | rs779153546 |
23andMe | rs779153546 |
SNPshot | rs779153546 |
SNPdbe | rs779153546 |
MSV3d | rs779153546 |
GWAS Ctlg | rs779153546 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs779153546(T;T) |
Alt | rs779153546(T;T) |
Reference | Rs779153546(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | COL5A2 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.189963479C>T |
CLNSRC | |
CLNACC | RCV000198159.1, |