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rs1061170
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Age-related macular degeneration is a leading form of blindness in Western countries and is associated with a common SNP (rs 1061170/Y402H) in the Factor H gene, which encodes the two complement inhibitors Factor H and FHL1.
|
21930971 |
2011 |
|
rs1061170
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The Y402H polymorphism within the seventh short consensus repeat of FH was recently shown to be associated with age-related macular degeneration, the most common cause of irreversible blindness in the Western world.
|
17339482 |
2007 |
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rs1061170
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The common variant in the human complement Factor H gene (CFH), with Tyr402His, is linked to age-related macular degeneration (AMD), a prevalent disorder leading to visual impairment and irreversible blindness in elderly patients.
|
17399790 |
2007 |
|
rs1061170
|
|
|
0.050 |
GeneticVariation |
BEFREE |
We tested the hypothesis that modifiable lifestyle factors alter the genetic susceptibility associated with a common coding variant in the complement factor H (CFH) gene, Y402H, for the leading cause of blindness among the elderly, age-related macular degeneration (AMD).
|
16816528 |
2006 |
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rs1061170
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Using a large sample of cases and controls from a single center, we show that a T-->C substitution in exon 9 (Y402H) of the complement factor H gene is strongly associated with susceptibility to age-related macular degeneration, the most common cause of blindness in the elderly.
|
15895326 |
2005 |
|
rs10490924
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The polymorphism rs10490924 (A69S) in the age-related maculopathy susceptibility 2 (ARMS2) gene is highly associated with age-related macular degeneration, which is the leading cause of blindness among the elderly population.
|
29316486 |
2018 |
|
rs10490924
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The polymorphism rs10490924 (A69S) in the age-related maculopathy susceptibility 2 (ARMS2) gene is highly associated with age-related macular degeneration, which is the leading cause of blindness among the elderly population.
|
28915445 |
2017 |
|
rs104893768
|
|
|
0.010 |
GeneticVariation |
BEFREE |
P23H is the most common mutation in the RHODOPSIN (RHO) gene leading to a dominant form of retinitis pigmentosa (RP), a rod photoreceptor degeneration that invariably causes vision loss.
|
29281027 |
2018 |
|
rs1177783734
|
|
|
0.010 |
GeneticVariation |
BEFREE |
P23H is the most common mutation in the RHODOPSIN (RHO) gene leading to a dominant form of retinitis pigmentosa (RP), a rod photoreceptor degeneration that invariably causes vision loss.
|
29281027 |
2018 |
|
rs121909124
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We gain further insight into the distinctive regulatory steps of GCAP2 distribution, by showing that a phosphomimic at position 201 is sufficient to retain GCAP2 at proximal compartments; and that the bovine equivalent to blindness-causative mutation G157R/GCAP2 results in enhanced phosphorylation in vitro and significant retention at the inner segment in vivo, as likely contributing factors to the pathophysiology.
|
29440717 |
2018 |
|
rs121918632
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Results In both pedigrees, we identified SCN1A mutation p.F1499L, which has been previously associated with familial hemiplegic migraine type 3 and elicited repetitive daily blindness.
|
29145747 |
2018 |
|
rs147394623
|
|
|
0.010 |
GeneticVariation |
BEFREE |
DHDDS is of biomedical importance, as a non-conservative mutation (K42E) in the enzyme results in retinitis pigmentosa, ultimately leading to blindness.
|
28809830 |
2017 |
|
rs763544450
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Controlled delivery of tauroursodeoxycholic acid from biodegradable microspheres slows retinal degeneration and vision loss in P23H rats.
|
28542454 |
2017 |
|
rs61750172
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The R838S Mutation in Retinal Guanylyl Cyclase 1 (RetGC1) Alters Calcium Sensitivity of cGMP Synthesis in the Retina and Causes Blindness in Transgenic Mice.
|
27703005 |
2016 |
|
rs151045328
|
|
|
0.010 |
GeneticVariation |
BEFREE |
An antisense oligonucleotide (ASO) was used to correct defective pre-mRNA splicing of transcripts from the USH1C gene with the c.216G>A mutation, which causes human Usher syndrome, the leading genetic cause of combined deafness and blindness.
|
23380860 |
2013 |
|
rs111699024
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Direct sequencing of ATOH7 in 12 patients with optic nerve hypoplasia, one of the leading causes of blindness in children, revealed two novel non-synonymous mutations (Arg65Gly, Ala47Thr) which were not found in 90 unrelated controls (combined Fisher's exact P=0.0136).
|
20395239 |
2010 |
|
rs62636299
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Loss of charge at this position may represent a mechanism by which the E417Q mutation causes blindness in LCA patients.
|
20043869 |
2010 |
|
rs28936700
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Typing 4339delG and G61E mutations should help to prevent blindness resulting from a delayed diagnosis of PCG in Morocco.
|
12372064 |
2002 |
|
rs62653011
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The RPE65 mutations Y368H and IVS1 + 5g-->a present in compound heterozygous form cause severe visual compromise in childhood and progress to nearly total vision loss by the second to third decades of life.
|
11786058 |
2002 |
|
rs104894572
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The P28T carrier rate in this endogamous population is approximately 5%, suggesting that the mutation may be an important cause of early childhood blindness in countries with a sizeable Roma minority.
|
10521295 |
1999 |
|
rs751529077
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The P28T carrier rate in this endogamous population is approximately 5%, suggesting that the mutation may be an important cause of early childhood blindness in countries with a sizeable Roma minority.
|
10521295 |
1999 |