rs1617640
| Orientation | minus |
| Stabilized | minus |
| Make rs1617640(G;G) |
| Make rs1617640(G;T) |
| Make rs1617640(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 100719675 |
| Gene | EPO |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1617640 |
| dbSNP (classic) | rs1617640 |
| ClinGen | rs1617640 |
| ebi | rs1617640 |
| HLI | rs1617640 |
| Exac | rs1617640 |
| Gnomad | rs1617640 |
| Varsome | rs1617640 |
| LitVar | rs1617640 |
| Map | rs1617640 |
| PheGenI | rs1617640 |
| Biobank | rs1617640 |
| 1000 genomes | rs1617640 |
| hgdp | rs1617640 |
| ensembl | rs1617640 |
| geneview | rs1617640 |
| scholar | rs1617640 |
| rs1617640 | |
| pharmgkb | rs1617640 |
| gwascentral | rs1617640 |
| openSNP | rs1617640 |
| 23andMe | rs1617640 |
| SNPshot | rs1617640 |
| SNPdbe | rs1617640 |
| MSV3d | rs1617640 |
| GWAS Ctlg | rs1617640 |
| GMAF | 0.3379 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 18458324
] the T allele of SNP rs1617640 in the promoter of the EPO gene is significantly associated with Proliferative diabetic retinopathy (PDR) and end stage renal disease (ESRD). The EPO concentration in human vitreous body was 7.5-fold higher in normal subjects with the TT risk genotype than in those with the GG genotype.
| OMIM | 612623 |
| Desc | MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2; MVCD2 |
| Variant | |
| Related | also |
[PMID 20065225] Association between erythropoietin gene polymorphisms and diabetic retinopathy
[PMID 21092038] Relation between renal dysfunction requiring renal replacement therapy and promoter polymorphism of the erythropoietin gene in cardiac surgery
[PMID 22669473] Common variants of the genes encoding erythropoietin and its receptor modulate cognitive performance in schizophrenia.
[PMID 23142128] Association between polymorphisms in erythropoietin gene and upper limit haematocrit levels among regular blood donors
[PMID 22843933] The functional polymorphism of erythropoietin gene rs1617640 G>T is not associated with susceptibility and clinical outcome of early-stage breast cancer.
[PMID 24821155] Single nucleotide polymorphisms at erythropoietin, superoxide dismutase 1, splicing factor, arginine/serin-rich 15 and plasmacytoma variant translocation genes association with diabetic nephropathy
| ClinVar | |
|---|---|
| Risk | rs1617640(T;T) |
| Alt | rs1617640(T;T) |
| Reference | rs1617640(G;G) |
| Significance | Other |
| Disease | Microvascular complications of diabetes 2 |
| Variation | info |
| Gene | EPO |
| CLNDBN | Microvascular complications of diabetes 2 |
| Reversed | 1 |
| HGVS | NC_000007.13:g.100317298C>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000018073.2, |
[PMID 25656761] Genetic disposition and modifiable factors independently associated with anemia in patients with type 2 diabetes mellitus
[PMID 25675872] Association of erythropoietin gene polymorphisms with retinopathy in a Chinese cohort with type 2 diabetes mellitus
