rs28941785
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs28941785(C;T) |
| Make rs28941785(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 70415987 |
| Gene | CTH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28941785 |
| dbSNP (classic) | rs28941785 |
| ClinGen | rs28941785 |
| ebi | rs28941785 |
| HLI | rs28941785 |
| Exac | rs28941785 |
| Gnomad | rs28941785 |
| Varsome | rs28941785 |
| LitVar | rs28941785 |
| Map | rs28941785 |
| PheGenI | rs28941785 |
| Biobank | rs28941785 |
| 1000 genomes | rs28941785 |
| hgdp | rs28941785 |
| ensembl | rs28941785 |
| geneview | rs28941785 |
| scholar | rs28941785 |
| rs28941785 | |
| pharmgkb | rs28941785 |
| gwascentral | rs28941785 |
| openSNP | rs28941785 |
| 23andMe | rs28941785 |
| SNPshot | rs28941785 |
| SNPdbe | rs28941785 |
| MSV3d | rs28941785 |
| GWAS Ctlg | rs28941785 |
| GMAF | 0.003214 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs28941785(A;A) rs28941785(T;T) |
| Alt | rs28941785(A;A) rs28941785(T;T) |
| Reference | Rs28941785(C;C) |
| Significance | Pathogenic |
| Disease | Cystathioninuria |
| Variation | info |
| Gene | CTH |
| CLNDBN | Cystathioninuria |
| Reversed | 0 |
| HGVS | NC_000001.10:g.70881670C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000003073.3, |
