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: 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
dbSNP: rs1567997496
rs1567997496
Entrez Id: 11322
Gene Symbol: TMC6
TMC6
CUI: C0014522
Disease:
Epidermodysplasia Verruciformis 		A 0.700 CausalMutation CLINVAR
dbSNP: rs769471844
rs769471844
Entrez Id: 11322
Gene Symbol: TMC6
TMC6
CUI: C4722564
Disease:
EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 		A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs12449858
rs12449858
Entrez Id: 11322
Gene Symbol: TMC6
TMC6
CUI: C0014522
Disease:
Epidermodysplasia Verruciformis 		0.010 GeneticVariation BEFREE Direct sequencing and SacI digestion revealed genotype frequencies of C457T, 457T, and 457C alleles in 16 individuals of EV families were of 9, 3, and 4, which were 26, 0, and 24 in 50 unrelated normal controls, respectively. 17008061 2006
dbSNP: rs1328913192
rs1328913192
Entrez Id: 11322;147138
Gene Symbol: TMC6;TMC8
TMC6;TMC8
CUI: C0014522
Disease:
Epidermodysplasia Verruciformis 		0.010 GeneticVariation BEFREE Direct sequencing and SacI digestion revealed genotype frequencies of C457T, 457T, and 457C alleles in 16 individuals of EV families were of 9, 3, and 4, which were 26, 0, and 24 in 50 unrelated normal controls, respectively. 17008061 2006
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: 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: 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: 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: 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