TMC6, transmembrane channel like 6, 11322

N. diseases: 41; N. variants: 17
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2748427
rs2748427
Entrez Id: 11322
Gene Symbol: TMC6
TMC6
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2748427
rs2748427
Entrez Id: 11322
Gene Symbol: TMC6
TMC6
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs429216
rs429216
Entrez Id: 11322;147138
Gene Symbol: TMC6;TMC8
TMC6;TMC8
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs429216
rs429216
Entrez Id: 11322;147138
Gene Symbol: TMC6;TMC8
TMC6;TMC8
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2253277
rs2253277
Entrez Id: 11322;100131096
Gene Symbol: TMC6;TNRC6C-AS1
TMC6;TNRC6C-AS1
CUI: C0202239
Disease:
Uric acid measurement (procedure) 		0.700 GeneticVariation GWASCAT Heritability and Genome-Wide Association Analyses of Serum Uric Acid in Middle and Old-Aged Chinese Twins. 29559957 2018
dbSNP: rs2748424
rs2748424
Entrez Id: 11322;147138
Gene Symbol: TMC6;TMC8
TMC6;TMC8
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs2748424
rs2748424
Entrez Id: 11322;147138
Gene Symbol: TMC6;TMC8
TMC6;TMC8
CUI: C0524587
Disease:
Mean Corpuscular Volume (result) 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs2748424
rs2748424
Entrez Id: 11322;147138
Gene Symbol: TMC6;TMC8
TMC6;TMC8
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs429216
rs429216
Entrez Id: 11322;147138
Gene Symbol: TMC6;TMC8
TMC6;TMC8
CUI: C0427460
Disease:
Red cell distribution width determination 		G 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs429216
rs429216
Entrez Id: 11322;147138
Gene Symbol: TMC6;TMC8
TMC6;TMC8
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		G 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs2748424
rs2748424
Entrez Id: 11322;147138
Gene Symbol: TMC6;TMC8
TMC6;TMC8
CUI: C0206161
Disease:
Reticulocyte count (procedure) 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs2748425
rs2748425
Entrez Id: 11322;147138
Gene Symbol: TMC6;TMC8
TMC6;TMC8
CUI: C0206161
Disease:
Reticulocyte count (procedure) 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs2748425
rs2748425
Entrez Id: 11322;147138
Gene Symbol: TMC6;TMC8
TMC6;TMC8
CUI: C0427460
Disease:
Red cell distribution width determination 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs2748425
rs2748425
Entrez Id: 11322;147138
Gene Symbol: TMC6;TMC8
TMC6;TMC8
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs2748427
rs2748427
Entrez Id: 11322
Gene Symbol: TMC6
TMC6
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs3794738
rs3794738
Entrez Id: 11322
Gene Symbol: TMC6
TMC6
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: rs453922
rs453922
Entrez Id: 11322;147138
Gene Symbol: TMC6;TMC8
TMC6;TMC8
CUI: C0206161
Disease:
Reticulocyte count (procedure) 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs1567989416
rs1567989416
Entrez Id: 11322
Gene Symbol: TMC6
TMC6
CUI: C0014522
Disease:
Epidermodysplasia Verruciformis 		T 0.700 GeneticVariation CLINVAR Novel homozygous frameshift mutation of EVER1 gene in an epidermodysplasia verruciformis patient. 17139267 2007
dbSNP: rs769471844
rs769471844
Entrez Id: 11322
Gene Symbol: TMC6
TMC6
CUI: C0014522
Disease:
Epidermodysplasia Verruciformis 		A 0.700 GeneticVariation CLINVAR Novel homozygous frameshift mutation of EVER1 gene in an epidermodysplasia verruciformis patient. 17139267 2007
dbSNP: rs1567989416
rs1567989416
Entrez Id: 11322
Gene Symbol: TMC6
TMC6
CUI: C0014522
Disease:
Epidermodysplasia Verruciformis 		T 0.700 GeneticVariation CLINVAR Novel mutations of EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis. 15042430 2004
dbSNP: rs769471844
rs769471844
Entrez Id: 11322
Gene Symbol: TMC6
TMC6
CUI: C0014522
Disease:
Epidermodysplasia Verruciformis 		A 0.700 GeneticVariation CLINVAR Novel mutations of EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis. 15042430 2004
dbSNP: rs121908327
rs121908327
Entrez Id: 11322
Gene Symbol: TMC6
TMC6
CUI: C4722564
Disease:
EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 		A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs121908328
rs121908328
Entrez Id: 11322
Gene Symbol: TMC6
TMC6
CUI: C4722564
Disease:
EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 		A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs121908329
rs121908329
Entrez Id: 11322
Gene Symbol: TMC6
TMC6
CUI: C4722564
Disease:
EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 		T 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs1555655146
rs1555655146
Entrez Id: 11322
Gene Symbol: TMC6
TMC6
CUI: C0014522
Disease:
Epidermodysplasia Verruciformis 		CA 0.700 CausalMutation CLINVAR