rs2234036
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs2234036(A;A) |
| Make rs2234036(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | X |
| Position | 106035377 |
| Gene | SERPINA7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2234036 |
| dbSNP (classic) | rs2234036 |
| ClinGen | rs2234036 |
| ebi | rs2234036 |
| HLI | rs2234036 |
| Exac | rs2234036 |
| Gnomad | rs2234036 |
| Varsome | rs2234036 |
| LitVar | rs2234036 |
| Map | rs2234036 |
| PheGenI | rs2234036 |
| Biobank | rs2234036 |
| 1000 genomes | rs2234036 |
| hgdp | rs2234036 |
| ensembl | rs2234036 |
| geneview | rs2234036 |
| scholar | rs2234036 |
| rs2234036 | |
| pharmgkb | rs2234036 |
| gwascentral | rs2234036 |
| openSNP | rs2234036 |
| 23andMe | rs2234036 |
| SNPshot | rs2234036 |
| SNPdbe | rs2234036 |
| MSV3d | rs2234036 |
| GWAS Ctlg | rs2234036 |
| GMAF | 0.004837 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs2234036(A;A) |
| Alt | rs2234036(A;A) |
| Reference | Rs2234036(G;G) |
| Significance | Pathogenic |
| Disease | Thyroxine-binding globulin Thyroxine-binding globulin deficiency |
| Variation | info |
| Gene | SERPINA7 |
| CLNDBN | Thyroxine-binding globulin, variant A Thyroxine-binding globulin deficiency |
| Reversed | 1 |
| HGVS | NC_000023.10:g.105279368C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000010439.3, RCV000490381.1, |
