|
rs2382817
|
PNKD;TMBIM1
|
Inflammatory Bowel Diseases
|
|
0.810 |
GeneticVariation |
BEFREE |
Intriguingly this susceptibility single-nucleotide polymorphism (SNP) is in strong linkage disequilibrium (r<sup>2</sup> = 0.90, D' = 0.96) with the previously discovered GWAS SNP rs2382817 for inflammatory bowel disease (IBD).
|
27005424 |
2016 |
|
rs992157
|
PNKD;TMBIM1
|
Colorectal Carcinoma
|
|
0.730 |
GeneticVariation |
BEFREE |
Variant rs992157 is significantly associated with the susceptibility and progression of CRC.
|
30447906 |
2019 |
|
rs992157
|
PNKD;TMBIM1
|
Colorectal Carcinoma
|
|
0.730 |
GeneticVariation |
BEFREE |
The combined analysis identified a new risk association for CRC at 2q35 marked by rs992157 (P = 3.15 × 10<sup>-8</sup>, odds ratio = 1.10, 95% confidence interval = 1.06-1.13), which is intronic to PNKD (paroxysmal non-kinesigenic dyskinesia) and TMBIM1 (transmembrane BAX inhibitor motif containing 1).
|
27005424 |
2016 |
|
rs992157
|
PNKD;TMBIM1
|
Colorectal Carcinoma
|
|
0.730 |
GeneticVariation |
BEFREE |
The previously reported association between the single-nucleotide polymorphism (SNP) rs992157 (2q35) and CRC was independently replicated (p = 2.08 × 10<sup>-4</sup> ; OR, 1.14; 95% CI, 1.06-1.23), and it was genome-wide significant in combined analysis (p = 1.50 × 10<sup>-9</sup> ; OR, 1.12; 95% CI, 1.08-1.16).
|
28960316 |
2018 |
|
rs992157
|
PNKD;TMBIM1
|
Neoplasm Metastasis
|
|
0.010 |
GeneticVariation |
BEFREE |
The frequency of the genotype and the allele of rs992157 were compared between the patients and the controls and between different subgroups of patients classified by status of metastasis.
|
30447906 |
2019 |
|
rs2382817
|
PNKD;TMBIM1
|
Inflammatory Bowel Diseases
|
A |
0.810 |
GeneticVariation |
GWASCAT |
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
|
23128233 |
2012 |
|
rs2382817
|
PNKD;TMBIM1
|
Inflammatory Bowel Diseases
|
|
0.810 |
GeneticVariation |
GWASCAT |
Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.
|
28067908 |
2017 |
|
rs992157
|
PNKD;TMBIM1
|
Colorectal Carcinoma
|
A |
0.730 |
GeneticVariation |
GWASCAT |
The previously reported association between the single-nucleotide polymorphism (SNP) rs992157 (2q35) and CRC was independently replicated (p = 2.08 × 10<sup>-4</sup> ; OR, 1.14; 95% CI, 1.06-1.23), and it was genome-wide significant in combined analysis (p = 1.50 × 10<sup>-9</sup> ; OR, 1.12; 95% CI, 1.08-1.16).
|
28960316 |
2018 |
|
rs992157
|
PNKD;TMBIM1
|
Colorectal Carcinoma
|
A |
0.730 |
GeneticVariation |
GWASCAT |
Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
|
29917119 |
2019 |
|
rs2271543
|
PNKD;TMBIM1
|
Cardiovascular Diseases
|
|
0.700 |
GeneticVariation |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
rs2292553
|
PNKD;TMBIM1;MIR6513
|
Body Height
|
|
0.700 |
GeneticVariation |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
rs2292553
|
PNKD;TMBIM1;MIR6513
|
Biliary calculi
|
|
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.
|
30504769 |
2018 |
|
rs2382817
|
PNKD;TMBIM1
|
Crohn Disease
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.
|
26192919 |
2015 |
|
rs2382817
|
PNKD;TMBIM1
|
Ulcerative Colitis
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.
|
26192919 |
2015 |
|
rs2382818
|
PNKD;TMBIM1
|
Systolic Pressure
|
|
0.700 |
GeneticVariation |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
rs4674280
|
PNKD;TMBIM1
|
Red cell distribution width determination
|
G |
0.700 |
GeneticVariation |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
|
rs4674280
|
PNKD;TMBIM1
|
RDW - Red blood cell distribution width result
|
G |
0.700 |
GeneticVariation |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
|
rs4791
|
PNKD;TMBIM1
|
Reticulocyte count (procedure)
|
T |
0.700 |
GeneticVariation |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
|
rs992157
|
PNKD;TMBIM1
|
Malignant tumor of colon
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci.
|
28960316 |
2018 |
|
rs992157
|
PNKD;TMBIM1
|
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
|
29917119 |
2019 |
|
rs992157
|
PNKD;TMBIM1
|
Malignant tumor of colon
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
|
29917119 |
2019 |
|
rs992157
|
PNKD;TMBIM1
|
Malignant neoplasm of large intestine
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
|
29917119 |
2019 |
|
rs992157
|
PNKD;TMBIM1
|
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci.
|
28960316 |
2018 |
|
rs992157
|
PNKD;TMBIM1
|
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci.
|
28960316 |
2018 |
|
rs992157
|
PNKD;TMBIM1
|
Colorectal Neoplasms
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
|
29917119 |
2019 |