RS1061170 CFH
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What This Variant Does
"rs1061170 is a SNP in the complement factor H CFH gene
Associated Conditions
Basal laminar drusen
Age related macular degeneration 4
Basal laminar drusen
Age related macular degeneration 4
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
Hemolytic uremic syndrome
atypical
susceptibility to
1
Factor H deficiency
Atypical hemolytic-uremic syndrome
Basal laminar drusen
Age related macular degeneration 4
Basal laminar drusen
Age related macular degeneration 4
GWAS Studies (8)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Age-related macular degeneration | C | OR: 2.41 | 1E-261 | PubMed |
| Age-related macular degeneration | — | — | 4E-117 | PubMed |
| Baculoviral IAP repeat-containing protein 5 levels | T | OR: 0.3 | 2E-110 | PubMed |
| Age-related macular degeneration (choroidal neovascularisation) | — | OR: 2.78 | 1E-108 | PubMed |
| Age-related macular degeneration (geographic atrophy) | — | OR: 2.78 | 5E-67 | PubMed |
| Membrane-associated progesterone receptor component 2 levels (PGRMC2.10631.9.3) | T | OR: 0.38 | 2E-52 | PubMed |
| Amyloid beta A4 precursor protein-binding family B member 2 levels | T | OR: 0.14 | 2E-25 | PubMed |
| Complement factor H binding to malondialdehyde | — | — | 3E-22 | PubMed |
ClinVar Assertions (1)
NM_000186.4(CFH):c.1204= (p.His402=)
Population Frequencies
gnomAD ALL
63.6%
1kG AFR
36.2%
1kG ALL
26.7%
1kG AMR
76.7%
1kG EAS
95.1%
1kG EUR
63.8%
1kG SAS
71.3%
Other Variants in CFH