rs2293870
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs2293870(C;C) |
| Make rs2293870(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 122461760 |
| Gene | HTRA1, LOC105378525 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2293870 |
| dbSNP (classic) | rs2293870 |
| ClinGen | rs2293870 |
| ebi | rs2293870 |
| HLI | rs2293870 |
| Exac | rs2293870 |
| Gnomad | rs2293870 |
| Varsome | rs2293870 |
| LitVar | rs2293870 |
| Map | rs2293870 |
| PheGenI | rs2293870 |
| Biobank | rs2293870 |
| 1000 genomes | rs2293870 |
| hgdp | rs2293870 |
| ensembl | rs2293870 |
| geneview | rs2293870 |
| scholar | rs2293870 |
| rs2293870 | |
| pharmgkb | rs2293870 |
| gwascentral | rs2293870 |
| openSNP | rs2293870 |
| 23andMe | rs2293870 |
| SNPshot | rs2293870 |
| SNPdbe | rs2293870 |
| MSV3d | rs2293870 |
| GWAS Ctlg | rs2293870 |
| GMAF | 0.2842 |
| Max Magnitude | 0 |
[PMID 18164066
] rs2293870 showed as strong an association with increased susceptibility to neovascular age related macular degeneration as the haplotypes containing rs10490924 and rs11200638.
[PMID 18207215] rs2293870 and rs11200638 are among the most significantly associated HTRA1 SNPs with age related macular degeneration.
[PMID 19796758] Comprehensive Analysis of Complement Factor H and LOC387715/ARMS2/HTRA1 Variants with Respect to Phenotype in Advanced Age-related Macular Degeneration
| ClinVar | |
|---|---|
| Risk | rs2293870(C;C) rs2293870(T;T) |
| Alt | rs2293870(C;C) rs2293870(T;T) |
| Reference | Rs2293870(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Macular degeneration |
| Variation | info |
| Gene | HTRA1 |
| CLNDBN | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Macular degeneration |
| Reversed | 0 |
| HGVS | NC_000010.10:g.124221276G>C; NC_000010.10:g.124221276G>T |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000020490.1, RCV000265972.1, RCV000020491.1, RCV000313539.1, |
[PMID 18316707] HTRA1 variants in exudative age-related macular degeneration and interactions with smoking and CFH.
[PMID 19026761] Molecular pathology of age-related macular degeneration.
[PMID 20140183] Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration.
[PMID 23644223] Variants at chromosome 10q26 locus and the expression of HTRA1 in the retina
[PMID 26310622] Synonymous variants in HTRA1 implicated in AMD susceptibility impair its capacity to regulate TGF-β signaling
