|
rs119475041
|
|
Desmosterolosis
|
T |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs119475041
|
|
Desmosterolosis
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs119475041
|
|
Desmosterolosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs28939092
|
|
Desmosterolosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.
|
21671375 |
2011 |
|
rs28939092
|
|
Desmosterolosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.
|
11519011 |
2001 |
|
rs28939092
|
|
Desmosterolosis
|
G |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs387906939
|
|
Desmosterolosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.
|
21671375 |
2011 |
|
rs387906939
|
|
Desmosterolosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.
|
11519011 |
2001 |
|
rs387906939
|
|
Desmosterolosis
|
T |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs387906940
|
|
Desmosterolosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.
|
21671375 |
2011 |
|
rs387906940
|
|
Desmosterolosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.
|
11519011 |
2001 |
|
rs387906940
|
|
Desmosterolosis
|
T |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs281797256
|
|
Desmosterolosis
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.
|
21671375 |
2011 |
|
rs281797256
|
|
Desmosterolosis
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.
|
11519011 |
2001 |
|
rs281797257
|
|
Desmosterolosis
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.
|
21671375 |
2011 |
|
rs281797257
|
|
Desmosterolosis
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.
|
11519011 |
2001 |
|
rs387906938
|
|
Desmosterolosis
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs597021
|
|
Body Height
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
rs600491
|
|
Alzheimer Disease, Late Onset
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our findings indicate a gender dependent effect of DHCR24 rs600491 polymorphism on the susceptibility to AD.
|
22910610 |
2012 |
|
rs600491
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
The single locus association analysis indicated that men carrying the T allele of rs600491 had an increased risk of AD (OR 1.7 95% CI 1.2-2.4; P = 0.004, Bonferroni corrected P = 0.048 with 12 tests).
|
17510943 |
2007 |
|
rs638944
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
To examine genetic association of the DHCR24 with AD, we genotyped four single nucleotide polymorphism (SNP) sites (rs638944, rs600491, rs718265, and rs7374) in 414 Finnish AD cases and 459 controls and calculated the allelic and genotypic distribution of both cases and controls.
|
17510943 |
2007 |
|
rs718265
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
We also measured CSF Abeta(42), tau and phosphorylated tau (ptau) levels in a subgroup of AD cases (n = 44) and controls (n = 10) and found that AD cases that carry rs718265 GG had lower levels of Abeta(42) than other genotype carriers.
|
17510943 |
2007 |
|
rs7374
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
To examine genetic association of the DHCR24 with AD, we genotyped four single nucleotide polymorphism (SNP) sites (rs638944, rs600491, rs718265, and rs7374) in 414 Finnish AD cases and 459 controls and calculated the allelic and genotypic distribution of both cases and controls.
|
17510943 |
2007 |