rs760462252
From SNPedia
					| Orientation | plus | 
| Stabilized | plus | 
| Geno | Mag | Summary | 
|---|---|---|
| (C;C) | 0 | common in clinvar | 
| Make rs760462252(C;T) | 
| Make rs760462252(T;T) | 
| Reference | GRCh38.p7 38.3/150 | 
| Chromosome | 2 | 
| Position | 227307839 | 
| Gene | COL4A3, LOC654841 | 
| is a | snp | 
| is | mentioned by | 
| dbSNP | rs760462252 | 
| dbSNP (classic) | rs760462252 | 
| ClinGen | rs760462252 | 
| ebi | rs760462252 | 
| HLI | rs760462252 | 
| Exac | rs760462252 | 
| Gnomad | rs760462252 | 
| Varsome | rs760462252 | 
| LitVar | rs760462252 | 
| Map | rs760462252 | 
| PheGenI | rs760462252 | 
| Biobank | rs760462252 | 
| 1000 genomes | rs760462252 | 
| hgdp | rs760462252 | 
| ensembl | rs760462252 | 
| geneview | rs760462252 | 
| scholar | rs760462252 | 
| rs760462252 | |
| pharmgkb | rs760462252 | 
| gwascentral | rs760462252 | 
| openSNP | rs760462252 | 
| 23andMe | rs760462252 | 
| SNPshot | rs760462252 | 
| SNPdbe | rs760462252 | 
| MSV3d | rs760462252 | 
| GWAS Ctlg | rs760462252 | 
| Max Magnitude | 0 | 
| ClinVar | |
|---|---|
| Risk | rs760462252(T;T) | 
| Alt | rs760462252(T;T) | 
| Reference | Rs760462252(C;C) | 
| Significance | Pathogenic | 
| Disease | Alport syndrome | 
| Variation | info | 
| Gene | COL4A3 LOC654841 | 
| CLNDBN | Alport syndrome, autosomal dominant | 
| Reversed | 0 | 
| HGVS | NC_000002.11:g.228172555C>T | 
| CLNSRC | |
| CLNACC | RCV000416721.1, | 


