rs1085307450
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Chromosome | 3 |
| Position | 171612277 |
| Gene | PLD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1085307450 |
| dbSNP (classic) | rs1085307450 |
| ClinGen | rs1085307450 |
| ebi | rs1085307450 |
| HLI | rs1085307450 |
| Exac | rs1085307450 |
| Gnomad | rs1085307450 |
| Varsome | rs1085307450 |
| LitVar | rs1085307450 |
| Map | rs1085307450 |
| PheGenI | rs1085307450 |
| Biobank | rs1085307450 |
| 1000 genomes | rs1085307450 |
| hgdp | rs1085307450 |
| ensembl | rs1085307450 |
| geneview | rs1085307450 |
| scholar | rs1085307450 |
| rs1085307450 | |
| pharmgkb | rs1085307450 |
| gwascentral | rs1085307450 |
| openSNP | rs1085307450 |
| 23andMe | rs1085307450 |
| SNPshot | rs1085307450 |
| SNPdbe | rs1085307450 |
| MSV3d | rs1085307450 |
| GWAS Ctlg | rs1085307450 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs1085307450(C;C) |
| Alt | rs1085307450(C;C) |
| Reference | Rs1085307450(T;T) |
| Significance | Pathogenic |
| Disease | Cardiac valvular defect |
| Variation | info |
| Gene | PLD1 |
| CLNDBN | Cardiac valvular defect, developmental |
| Reversed | 1 |
| HGVS | NC_000003.11:g.171330067A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000488913.1, |
