rs762080305
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs762080305(A;A) |
Make rs762080305(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 189043179 |
Gene | COL5A2 |
is a | snp |
is | mentioned by |
dbSNP | rs762080305 |
dbSNP (classic) | rs762080305 |
ClinGen | rs762080305 |
ebi | rs762080305 |
HLI | rs762080305 |
Exac | rs762080305 |
Gnomad | rs762080305 |
Varsome | rs762080305 |
LitVar | rs762080305 |
Map | rs762080305 |
PheGenI | rs762080305 |
Biobank | rs762080305 |
1000 genomes | rs762080305 |
hgdp | rs762080305 |
ensembl | rs762080305 |
geneview | rs762080305 |
scholar | rs762080305 |
rs762080305 | |
pharmgkb | rs762080305 |
gwascentral | rs762080305 |
openSNP | rs762080305 |
23andMe | rs762080305 |
SNPshot | rs762080305 |
SNPdbe | rs762080305 |
MSV3d | rs762080305 |
GWAS Ctlg | rs762080305 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs762080305(A;A) |
Alt | rs762080305(A;A) |
Reference | Rs762080305(G;G) |
Significance | Probable-Pathogenic |
Disease | not specified |
Variation | info |
Gene | COL5A2 |
CLNDBN | not specified |
Reversed | 0 |
HGVS | NC_000002.11:g.189907905G>A |
CLNSRC | |
CLNACC | RCV000200339.2, |