rs1065489
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs1065489(G;T) |
| Make rs1065489(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 196740644 |
| Gene | CFH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1065489 |
| dbSNP (classic) | rs1065489 |
| ClinGen | rs1065489 |
| ebi | rs1065489 |
| HLI | rs1065489 |
| Exac | rs1065489 |
| Gnomad | rs1065489 |
| Varsome | rs1065489 |
| LitVar | rs1065489 |
| Map | rs1065489 |
| PheGenI | rs1065489 |
| Biobank | rs1065489 |
| 1000 genomes | rs1065489 |
| hgdp | rs1065489 |
| ensembl | rs1065489 |
| geneview | rs1065489 |
| scholar | rs1065489 |
| rs1065489 | |
| pharmgkb | rs1065489 |
| gwascentral | rs1065489 |
| openSNP | rs1065489 |
| 23andMe | rs1065489 |
| SNPshot | rs1065489 |
| SNPdbe | rs1065489 |
| MSV3d | rs1065489 |
| GWAS Ctlg | rs1065489 |
| GMAF | 0.2332 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 19162324] Genetic variants in the region harbouring IL2/IL21 associated with ulcerative colitis Each copy of the less common T version of this SNP was associated with about 36% lower odds of meningococcal disease.
[PMID 17022693] Determination of complement factor H functional polymorphisms (V62I, Y402H, and E936D) using sequence-specific primer PCR and restriction fragment length polymorphisms.
[PMID 18483746
] Plasma therapy in atypical haemolytic uremic syndrome: lessons from a family with a factor H mutation.
[PMID 19187823] Coding variant I62V in the complement factor H gene is strongly associated with polypoidal choroidal vasculopathy.
[PMID 19861685] Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome.
[PMID 19958499] A particle swarm based hybrid system for imbalanced medical data sampling.
[PMID 20694013] Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease.
[PMID 23423485] Genetic variants of complement genes ficolin-2, mannose-binding lectin and complement factor H are associated with leprosy in Han Chinese from Southwest China
[PMID 24365176] Common variants in the complement factor H gene confer genetic susceptibility to central serous chorioretinopathy
[PMID 26296146] PREVALENCE OF THE COMPLEMENT FACTOR H AND GSTM1 GENES POLYMORPHISMS IN PATIENTS WITH CENTRAL SEROUS CHORIORETINOPATHY
| ClinVar | |
|---|---|
| Risk | rs1065489(T;T) |
| Alt | rs1065489(T;T) |
| Reference | Rs1065489(G;G) |
| Significance | Non-pathogenic |
| Disease | Basal laminar drusen Macular degeneration Mesangiocapillary glomerulonephritis Atypical hemolytic uremic syndrome |
| Variation | info |
| Gene | CFH |
| CLNDBN | Basal laminar drusen Macular degeneration Mesangiocapillary glomerulonephritis, type II Atypical hemolytic uremic syndrome |
| Reversed | 0 |
| HGVS | NC_000001.10:g.196709774G>T |
| CLNSRC | |
| CLNACC | RCV000272281.1, RCV000307823.1, RCV000362551.1, RCV000406400.1, |
