rs201697532
From SNPedia
					| Orientation | plus | 
| Stabilized | plus | 
| Geno | Mag | Summary | 
|---|---|---|
| (C;C) | 0 | common in clinvar | 
| Make rs201697532(C;T) | 
| Make rs201697532(T;T) | 
| Reference | GRCh38.p7 38.3/149 | 
| Chromosome | 2 | 
| Position | 227311838 | 
| Gene | COL4A3, LOC654841 | 
| is a | snp | 
| is | mentioned by | 
| dbSNP | rs201697532 | 
| dbSNP (classic) | rs201697532 | 
| ClinGen | rs201697532 | 
| ebi | rs201697532 | 
| HLI | rs201697532 | 
| Exac | rs201697532 | 
| Gnomad | rs201697532 | 
| Varsome | rs201697532 | 
| LitVar | rs201697532 | 
| Map | rs201697532 | 
| PheGenI | rs201697532 | 
| Biobank | rs201697532 | 
| 1000 genomes | rs201697532 | 
| hgdp | rs201697532 | 
| ensembl | rs201697532 | 
| geneview | rs201697532 | 
| scholar | rs201697532 | 
| rs201697532 | |
| pharmgkb | rs201697532 | 
| gwascentral | rs201697532 | 
| openSNP | rs201697532 | 
| 23andMe | rs201697532 | 
| SNPshot | rs201697532 | 
| SNPdbe | rs201697532 | 
| MSV3d | rs201697532 | 
| GWAS Ctlg | rs201697532 | 
| Max Magnitude | 0 | 
| ClinVar | |
|---|---|
| Risk | rs201697532(T;T) | 
| Alt | rs201697532(T;T) | 
| Reference | Rs201697532(C;C) | 
| Significance | Probable-Pathogenic | 
| Disease | Alport syndrome | 
| Variation | info | 
| Gene | COL4A3 LOC654841 | 
| CLNDBN | Alport syndrome, autosomal recessive | 
| Reversed | 0 | 
| HGVS | NC_000002.11:g.228176554C>T | 
| CLNSRC | |
| CLNACC | RCV000283598.1, | 


