Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs992157
rs992157
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C2675481
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		A 0.700 GeneticVariation GWASCAT Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci. 28960316 2018
dbSNP: rs992157
rs992157
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C0009404
Disease:
Colorectal Neoplasms 		A 0.700 GeneticVariation GWASCAT Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci. 28960316 2018
dbSNP: rs992157
rs992157
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C1319315
Disease:
Adenocarcinoma of large intestine 		A 0.700 GeneticVariation GWASCAT Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci. 28960316 2018
dbSNP: rs992157
rs992157
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C1837315
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		A 0.700 GeneticVariation GWASCAT Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci. 28960316 2018
dbSNP: rs4674280
rs4674280
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C0427460
Disease:
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
dbSNP: rs4674280
rs4674280
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C1304746
Disease:
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
dbSNP: rs4791
rs4791
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C0206161
Disease:
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
dbSNP: rs2382817
rs2382817
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C0010346
Disease:
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
dbSNP: rs2382817
rs2382817
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C0009324
Disease:
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
dbSNP: rs992157
rs992157
Entrez Id: 25953;64114
Gene Symbol: PNKD;TMBIM1
PNKD;TMBIM1
CUI: C0027627
Disease:
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