rs200672668
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs200672668(A;A) |
| Make rs200672668(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 2 |
| Position | 227273108 |
| Gene | COL4A3, LOC654841 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200672668 |
| dbSNP (classic) | rs200672668 |
| ClinGen | rs200672668 |
| ebi | rs200672668 |
| HLI | rs200672668 |
| Exac | rs200672668 |
| Gnomad | rs200672668 |
| Varsome | rs200672668 |
| LitVar | rs200672668 |
| Map | rs200672668 |
| PheGenI | rs200672668 |
| Biobank | rs200672668 |
| 1000 genomes | rs200672668 |
| hgdp | rs200672668 |
| ensembl | rs200672668 |
| geneview | rs200672668 |
| scholar | rs200672668 |
| rs200672668 | |
| pharmgkb | rs200672668 |
| gwascentral | rs200672668 |
| openSNP | rs200672668 |
| 23andMe | rs200672668 |
| SNPshot | rs200672668 |
| SNPdbe | rs200672668 |
| MSV3d | rs200672668 |
| GWAS Ctlg | rs200672668 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs200672668(A;A) |
| Alt | rs200672668(A;A) |
| Reference | Rs200672668(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Alport syndrome not provided |
| Variation | info |
| Gene | COL4A3 LOC654841 |
| CLNDBN | Alport syndrome, autosomal recessive not provided |
| Reversed | 0 |
| HGVS | NC_000002.11:g.228137824G>A |
| CLNSRC | |
| CLNACC | RCV000410611.1, RCV000489873.1, |
