|
rs8081319
|
|
Celiac Disease
|
|
0.800 |
GeneticVariation
|
GWASDB |
Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus.
|
24999842 |
2014 |
|
rs8081319
|
|
Celiac Disease
|
|
0.800 |
GeneticVariation
|
GWASCAT |
Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus.
|
24999842 |
2014 |
|
rs11651239
|
|
Leukemia, Myelocytic, Acute
|
A |
0.700 |
GeneticVariation
|
GWASCAT |
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
|
27903959 |
2017 |
|
rs12449696
|
|
Leukemia, Myelocytic, Acute
|
T |
0.700 |
GeneticVariation
|
GWASCAT |
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
|
27903959 |
2017 |
|
rs12450937
|
|
Leukemia, Myelocytic, Acute
|
T |
0.700 |
GeneticVariation
|
GWASCAT |
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
|
27903959 |
2017 |
|
rs1357271377
|
|
Colorectal Carcinoma
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs17573357
|
|
Leukemia, Myelocytic, Acute
|
A |
0.700 |
GeneticVariation
|
GWASCAT |
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
|
27903959 |
2017 |
|
rs1900101
|
|
Leukemia, Myelocytic, Acute
|
G |
0.700 |
GeneticVariation
|
GWASCAT |
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
|
27903959 |
2017 |
|
rs2106772
|
|
Leukemia, Myelocytic, Acute
|
T |
0.700 |
GeneticVariation
|
GWASCAT |
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
|
27903959 |
2017 |
|
rs7208415
|
|
Leukemia, Myelocytic, Acute
|
G |
0.700 |
GeneticVariation
|
GWASCAT |
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
|
27903959 |
2017 |
|
rs7215365
|
|
Leukemia, Myelocytic, Acute
|
C |
0.700 |
GeneticVariation
|
GWASCAT |
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
|
27903959 |
2017 |
|
rs9897583
|
|
Leukemia, Myelocytic, Acute
|
G |
0.700 |
GeneticVariation
|
GWASCAT |
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
|
27903959 |
2017 |
|
rs9906044
|
|
Body mass index
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
rs1172063879
|
|
Hypertrophic Cardiomyopathy
|
|
0.010 |
GeneticVariation
|
BEFREE |
Parallel changes were measured in 60 day R403Q HCM male hearts that were rescued by short-term administration of AICAR, an AMPK agonist.
|
22844503 |
2012 |
|
rs1233948559
|
|
Multiple Sclerosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The present study revealed no association between MS and T4216C variation in the ND1 mtDNA gene and A4917G variation in the mtDNA ND2 gene in the Iranian population.
|
26201854 |
2015 |
|
rs12453407
|
|
Hypertriglyceridemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
In the same sample (173 patients on olanzapine, quetiapine, chlorpromazine or mirtazapine [increasing the risk of hyperlipidemia] and 184 controls taking other antipsychotics), three (rs1266175, rs12453407 and rs9906543) of eight additional ACACA SNPs were significantly associated with hypertriglyceridemia in those taking drugs of interest, but not in controls.
|
19846279 |
2009 |
|
rs1266175
|
|
Hypertriglyceridemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
In the same sample (173 patients on olanzapine, quetiapine, chlorpromazine or mirtazapine [increasing the risk of hyperlipidemia] and 184 controls taking other antipsychotics), three (rs1266175, rs12453407 and rs9906543) of eight additional ACACA SNPs were significantly associated with hypertriglyceridemia in those taking drugs of interest, but not in controls.
|
19846279 |
2009 |
|
rs1277892620
|
|
Huntington Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Because of the known role of the GRIN2B C2664T polymorphism in HD neuropathology, which is partly due to increased glutamatergic neural transmission, we analyze how this polymorphism influences error processing and response inhibition in a sample of healthy probands (N=65).
|
20399867 |
2010 |
|
rs1277892620
|
|
Parkinson Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our negative findings suggest that it is unlikely that the GRIN2B C2664T polymorphism plays a substantial role in conferring susceptibility to PD in the Chinese population.
|
11956967 |
2002 |
|
rs1395589486
|
|
Chronic active hepatitis
|
|
0.010 |
GeneticVariation
|
BEFREE |
By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downstream of the common P30L mutation as well as a GCC to ACC change at codon 15 (A15T) in two subjects with classical CAH and a CCC to TCC change at codon 482 (P482S) in seven subjects referred for nonclassical CAH, precocious pubarche, menstrual irregularities, or hypertrichosis.
|
15126570 |
2004 |
|
rs1395589486
|
|
Hypertrichosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downstream of the common P30L mutation as well as a GCC to ACC change at codon 15 (A15T) in two subjects with classical CAH and a CCC to TCC change at codon 482 (P482S) in seven subjects referred for nonclassical CAH, precocious pubarche, menstrual irregularities, or hypertrichosis.
|
15126570 |
2004 |
|
rs2229416
|
|
Hypertriglyceridemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Acetyl-coenzyme A carboxylase alpha (ACACA) single-nucleotide polymorphism (SNP) (rs2229416) was significantly associated with hypertriglyceridemia, during exploration of antipsychotic direct effects on lipids.
|
19846279 |
2009 |
|
rs2542670
|
|
Tuberculosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The present study reported for the first time that the rs12939622, rs4262994 and rs2542670 genotypes in lnc-HNF1B-3:1 locus may influence the clinical manifestations of tuberculosis.
|
31692082 |
2020 |
|
rs73982299
|
|
Charcot-Marie-Tooth Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
We identified two different de novo missense changes (p.Arg207His and p.Tyr679Cys) in <i>SLC12A6</i> in three unrelated individuals with early-onset progressive CMT.
|
31439721 |
2020 |
|
rs748676559
|
|
Malignant neoplasm of esophagus
|
|
0.010 |
GeneticVariation
|
BEFREE |
Four distinct sequence alterations were identified: (a) in one gastric and one esophageal tumor, an A to C transversion occurred at nucleotide 5795 (CAC-->CCC), leading to a His-->Pro substitution at codon 179; (b) a second esophageal tumor had a C to T transition at nucleotide 8291 (ACC-->ATC), leading to a Thr-->Ile substitution at codon 277 of IGFBP-3; (c) one alteration comprised a G to C transversion in exon 1 at nucleotide 2132 (GGG-->GCG), leading to a Gly-->Ala substitution at codon 32 in two gastric cancers, seven esophageal cancers, and nine colon cancers; and (d) a C to G transversion located 17 nucleotides from the 3' splice site in intron 1 was observed in three colon cancers and four esophageal cancers.
|
9809981 |
1998 |