rs778034451
From SNPedia
					| Orientation | plus | 
| Stabilized | plus | 
| Geno | Mag | Summary | 
|---|---|---|
| (G;G) | 0 | common in clinvar | 
| Make rs778034451(A;A) | 
| Make rs778034451(A;G) | 
| Reference | GRCh38.p7 38.3/150 | 
| Chromosome | 2 | 
| Position | 227273117 | 
| Gene | COL4A3, LOC654841 | 
| is a | snp | 
| is | mentioned by | 
| dbSNP | rs778034451 | 
| dbSNP (classic) | rs778034451 | 
| ClinGen | rs778034451 | 
| ebi | rs778034451 | 
| HLI | rs778034451 | 
| Exac | rs778034451 | 
| Gnomad | rs778034451 | 
| Varsome | rs778034451 | 
| LitVar | rs778034451 | 
| Map | rs778034451 | 
| PheGenI | rs778034451 | 
| Biobank | rs778034451 | 
| 1000 genomes | rs778034451 | 
| hgdp | rs778034451 | 
| ensembl | rs778034451 | 
| geneview | rs778034451 | 
| scholar | rs778034451 | 
| rs778034451 | |
| pharmgkb | rs778034451 | 
| gwascentral | rs778034451 | 
| openSNP | rs778034451 | 
| 23andMe | rs778034451 | 
| SNPshot | rs778034451 | 
| SNPdbe | rs778034451 | 
| MSV3d | rs778034451 | 
| GWAS Ctlg | rs778034451 | 
| Max Magnitude | 0 | 
| ClinVar | |
|---|---|
| Risk | rs778034451(A;A) | 
| Alt | rs778034451(A;A) | 
| Reference | Rs778034451(G;G) | 
| Significance | Probable-Pathogenic | 
| Disease | Alport syndrome Alport syndrome | 
| Variation | info | 
| Gene | COL4A3 LOC654841 | 
| CLNDBN | Alport syndrome Alport syndrome, autosomal recessive | 
| Reversed | 0 | 
| HGVS | NC_000002.11:g.228137833G>A | 
| CLNSRC | |
| CLNACC | RCV000348330.1, RCV000449541.1, | 


