rs41348347
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs41348347(G;T) |
| Make rs41348347(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 23048049 |
| Gene | THBD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41348347 |
| dbSNP (classic) | rs41348347 |
| ClinGen | rs41348347 |
| ebi | rs41348347 |
| HLI | rs41348347 |
| Exac | rs41348347 |
| Gnomad | rs41348347 |
| Varsome | rs41348347 |
| LitVar | rs41348347 |
| Map | rs41348347 |
| PheGenI | rs41348347 |
| Biobank | rs41348347 |
| 1000 genomes | rs41348347 |
| hgdp | rs41348347 |
| ensembl | rs41348347 |
| geneview | rs41348347 |
| scholar | rs41348347 |
| rs41348347 | |
| pharmgkb | rs41348347 |
| gwascentral | rs41348347 |
| openSNP | rs41348347 |
| 23andMe | rs41348347 |
| SNPshot | rs41348347 |
| SNPdbe | rs41348347 |
| MSV3d | rs41348347 |
| GWAS Ctlg | rs41348347 |
| GMAF | 0.009642 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs41348347(T;T) |
| Alt | rs41348347(T;T) |
| Reference | Rs41348347(G;G) |
| Significance | Non-pathogenic |
| Disease | Thrombophilia due to thrombomodulin defect Atypical hemolytic uremic syndrome |
| Variation | info |
| Gene | THBD |
| CLNDBN | Thrombophilia due to thrombomodulin defect Atypical hemolytic uremic syndrome |
| Reversed | 1 |
| HGVS | NC_000020.10:g.23028686C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013551.4, RCV000263795.1, |
