rs60910145
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 5.5 | ~6x higher risk for end-stage renal disease |
| (G;T) | 4.5 | ~3x higher risk for end-stage renal disease |
| (T;T) | 0 | common in complete genomics |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 36265988 |
| Gene | APOL1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs60910145 |
| dbSNP (classic) | rs60910145 |
| ClinGen | rs60910145 |
| ebi | rs60910145 |
| HLI | rs60910145 |
| Exac | rs60910145 |
| Gnomad | rs60910145 |
| Varsome | rs60910145 |
| LitVar | rs60910145 |
| Map | rs60910145 |
| PheGenI | rs60910145 |
| Biobank | rs60910145 |
| 1000 genomes | rs60910145 |
| hgdp | rs60910145 |
| ensembl | rs60910145 |
| geneview | rs60910145 |
| scholar | rs60910145 |
| rs60910145 | |
| pharmgkb | rs60910145 |
| gwascentral | rs60910145 |
| openSNP | rs60910145 |
| 23andMe | rs60910145 |
| SNPshot | rs60910145 |
| SNPdbe | rs60910145 |
| MSV3d | rs60910145 |
| GWAS Ctlg | rs60910145 |
| GMAF | 0.04959 |
| Max Magnitude | 5.5 |
The derived allele of coding SNP rs60910145 (p.I384M) defines, together with the derived allele of coding SNP rs73885319 (p.S342G), the APOL1 G1 allele. This allele has been shown to associate with kidney disease while conferring protection against Trypanosoma brucei rhodesiense. [PMID 20647424
]
gs329 represents G1/G2 "double heterozygotes".
[PMID 20635188] Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene.
| ClinVar | |
|---|---|
| Risk | Rs60910145(G;G) |
| Alt | Rs60910145(G;G) |
| Reference | Rs60910145(T;T) |
| Significance | Other |
| Disease | Focal segmental glomerulosclerosis 4 |
| Variation | info |
| Gene | APOL1 |
| CLNDBN | Focal segmental glomerulosclerosis 4, susceptibility to |
| Reversed | 0 |
| HGVS | NC_000022.10:g.36662034T>G |
| CLNSRC | |
| CLNACC | RCV000006453.3, RCV000154652.1, |
[PMID 22956460] Genetic variation in APOL1 and MYH9 genes is associated with chronic kidney disease among Nigerians.
[PMID 32354559] Association of Genetic Polymorphisms of TGF-β1, HMOX1, and APOL1 With CKD in Nigerian Patients With and Without HIV.
