|
rs429608
|
CYP21A2;SKIV2L
|
Age related macular degeneration
|
|
0.870 |
GeneticVariation |
BEFREE |
Nineteen single nucleotide polymorphisms (SNPs) previously associated with AMD, including rs10490924 (<i>ARMS2/HTRA1</i>), rs10737680 (<i>CFH</i>), rs13278062 (<i>TNFRSF10A</i>), rs1864163 (<i>CETP</i>), rs2230199 (<i>C3</i>), rs3130783 (<i>IER3/DDR1</i>), rs334353 (<i>TGFBR1</i>), rs3812111 (<i>COL10A1</i>), rs429608 (<i>C2/CFB</i>), rs4420638 (<i>APOE</i>), rs4698775 (<i>CFI</i>), rs5749482 (<i>TIMP3</i>), rs6795735 (<i>ADAMTS9</i>), rs8017304 (<i>RAD51B</i>), rs8135665 (<i>SLC16A8</i>), rs920915 (<i>LIPC</i>), rs943080 (<i>VEGFA</i>), rs9542236 (<i>B3GALTL</i>) and rs13081855 (<i>COL8A1/FILIP1L</i>), were genotyped in this cohort.
|
31819893 |
2019 |
|
rs429608
|
CYP21A2;SKIV2L
|
Age related macular degeneration
|
|
0.870 |
GeneticVariation |
BEFREE |
Prevalence of AMD-associated genetic risk variants, complement factor H (CFH) rs1061170, age-related maculopathy susceptibility 2 (ARMS2) rs10490924, component 3 (C3) rs2230199, complement factor B (CFB) rs641153 and superkiller viralicidic activity 2-like (SKIV2L) rs429608 and 4-year progression data in a population-representative cohort (The Irish Longitudinal study on Ageing (TILDA)) were assessed.
|
29453225 |
2018 |
|
rs429608
|
CYP21A2;SKIV2L
|
Age related macular degeneration
|
|
0.870 |
GeneticVariation |
BEFREE |
This meta-analysis showed that SKIV2L rs429608 was statistically associated with AMD and it might exert a protective effect on AMD.
|
27484132 |
2017 |
|
rs429608
|
CYP21A2;SKIV2L
|
Age related macular degeneration
|
|
0.870 |
GeneticVariation |
BEFREE |
Rs12153855C and rs9391734A alleles could further increase the susceptibility to AMD in subjects with rs800292, rs11200638 and rs429608 risk alleles.
|
26861912 |
2016 |
|
rs429608
|
CYP21A2;SKIV2L
|
Age related macular degeneration
|
|
0.870 |
GeneticVariation |
BEFREE |
Genotype distribution of rs1061170 (CFH), rs429608 (SKIV2L), rs2679798 (MYRIP) and both rs11549465 and rs11549467 (HIF1A) in AMD cases and healthy controls; association between genotypes and AMD subtypes.
|
24995509 |
2015 |
|
rs429608
|
CYP21A2;SKIV2L
|
Age related macular degeneration
|
|
0.870 |
GeneticVariation |
BEFREE |
After adjusting for age, gender, ARMS2 A69S, and CFHI62V, the A allele of rs429608 was significantly protective against neovascular A</span>MD (odds ratio [OR] 0.24, 95% confidence interval [CI] 0.122-0.484, p < 0.001), PCV (OR 0.43, 95% CI 0.262-0.704, p = 0.001), RAP (OR 0.09, 95% CI 0.014-0.581, p = 0.011).
|
24865191 |
2014 |
|
rs429608
|
CYP21A2;SKIV2L
|
Age related macular degeneration
|
G |
0.870 |
GeneticVariation |
GWASCAT |
Seven new loci associated with age-related macular degeneration.
|
23455636 |
2013 |
|
rs429608
|
CYP21A2;SKIV2L
|
Age related macular degeneration
|
|
0.870 |
GeneticVariation |
BEFREE |
The SKIV2L SNPs rs429608 and rs453821 were significantly associated with neovascular AMD (P = 7.39 × 10(-5); odds ratio [OR], 0.22; 95% confidence interval [CI], 0.10-0.50; and P = 0.001; OR, 0.38; 95% CI, 0.21-0.70, respectively), whereas borderline associations were detected for C2 rs547154 (P = 0.002) and RDBP rs760070 (P = 0.003).
|
23260260 |
2013 |
|
rs429608
|
CYP21A2;SKIV2L
|
Age related macular degeneration
|
|
0.870 |
GeneticVariation |
GWASDB |
Seven new loci associated with age-related macular degeneration.
|
23455636 |
2013 |
|
rs429608
|
CYP21A2;SKIV2L
|
Age related macular degeneration
|
|
0.870 |
GeneticVariation |
GWASDB |
Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.
|
22694956 |
2012 |
|
rs429608
|
CYP21A2;SKIV2L
|
Age related macular degeneration
|
|
0.870 |
GeneticVariation |
GWASDB |
Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population.
|
21909106 |
2011 |
|
rs429608
|
CYP21A2;SKIV2L
|
Age related macular degeneration
|
|
0.870 |
GeneticVariation |
GWASDB |
Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.
|
20861866 |
2010 |
|
rs429608
|
CYP21A2;SKIV2L
|
Age related macular degeneration
|
|
0.870 |
GeneticVariation |
GWASCAT |
Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.
|
20861866 |
2010 |
|
rs429608
|
CYP21A2;SKIV2L
|
Age related macular degeneration
|
G |
0.870 |
GeneticVariation |
GWASDB |
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
|
20385819 |
2010 |
|
rs429608
|
CYP21A2;SKIV2L
|
Age related macular degeneration
|
G |
0.870 |
GeneticVariation |
GWASCAT |
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
|
20385819 |
2010 |
|
rs406936
|
CYP21A2;SKIV2L
|
Age related macular degeneration
|
|
0.800 |
GeneticVariation |
GWASDB |
Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
|
23577725 |
2013 |
|
rs406936
|
CYP21A2;SKIV2L
|
Age related macular degeneration
|
|
0.800 |
GeneticVariation |
GWASCAT |
Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
|
23577725 |
2013 |
|
rs281875237
|
CYP21A2;SKIV2L
|
TRICHOHEPATOENTERIC SYNDROME 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.
|
22444670 |
2012 |
|
rs281875237
|
CYP21A2;SKIV2L
|
TRICHOHEPATOENTERIC SYNDROME 2
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs114212579
|
CYP21A2;SKIV2L
|
Arthritis, Psoriatic
|
|
0.700 |
GeneticVariation |
GWASCAT |
Genetic variation at the glycosaminoglycan metabolism pathway contributes to the risk of psoriatic arthritis but not psoriasis.
|
30552173 |
2019 |
|
rs492899
|
CYP21A2;SKIV2L
|
Primary biliary cirrhosis
|
G |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide Association Studies of Specific Antinuclear Autoantibody Subphenotypes in Primary Biliary Cholangitis.
|
30854688 |
2019 |
|
rs492899
|
CYP21A2;SKIV2L
|
Anti-nuclear antibody measurement
|
G |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide Association Studies of Specific Antinuclear Autoantibody Subphenotypes in Primary Biliary Cholangitis.
|
30854688 |
2019 |
|
rs80082277
|
CYP21A2;SKIV2L;NELFE;MIR1236
|
von Willebrand's factor (lab test)
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels.
|
30586737 |
2019 |
|
rs115566560
|
CYP21A2;SKIV2L
|
Blood Protein Measurement
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Co-regulatory networks of human serum proteins link genetics to disease.
|
30072576 |
2018 |
|
rs116503776
|
CYP21A2;SKIV2L
|
Age related macular degeneration
|
G |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide analysis of disease progression in age-related macular degeneration.
|
29346644 |
2018 |