TMEM106B, transmembrane protein 106B, 54664

N. diseases: 126; N. variants: 13
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554310600
rs1554310600
Entrez Id: 54664
Gene Symbol: TMEM106B
TMEM106B
CUI: C4693779
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 16 		0.800 GeneticVariation UNIPROT The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot. 29444210 2018
dbSNP: rs1554310600
rs1554310600
Entrez Id: 54664
Gene Symbol: TMEM106B
TMEM106B
CUI: C4693779
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 16 		A 0.800 GeneticVariation CLINVAR The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot. 29444210 2018
dbSNP: rs1554310600
rs1554310600
Entrez Id: 54664
Gene Symbol: TMEM106B
TMEM106B
CUI: C4693779
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 16 		0.800 GeneticVariation UNIPROT A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy. 29186371 2017
dbSNP: rs1554310600
rs1554310600
Entrez Id: 54664
Gene Symbol: TMEM106B
TMEM106B
CUI: C4693779
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 16 		A 0.800 GeneticVariation CLINVAR A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy. 29186371 2017
dbSNP: rs1554310600
rs1554310600
Entrez Id: 54664
Gene Symbol: TMEM106B
TMEM106B
CUI: C4693779
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 16 		A 0.800 CausalMutation CLINVAR
dbSNP: rs11509137
rs11509137
Entrez Id: 54664
Gene Symbol: TMEM106B
TMEM106B
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2043539
rs2043539
Entrez Id: 54664
Gene Symbol: TMEM106B
TMEM106B
CUI: C1269683
Disease:
Major Depressive Disorder 		A 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions. 30718901 2019
dbSNP: rs10950393
rs10950393
Entrez Id: 54664
Gene Symbol: TMEM106B
TMEM106B
CUI: C1269683
Disease:
Major Depressive Disorder 		C 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. 29942085 2018
dbSNP: rs10950393
rs10950393
Entrez Id: 54664
Gene Symbol: TMEM106B
TMEM106B
CUI: C0525045
Disease:
Mood Disorders 		C 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. 29942085 2018
dbSNP: rs10950398
rs10950398
Entrez Id: 54664
Gene Symbol: TMEM106B
TMEM106B
CUI: C1269683
Disease:
Major Depressive Disorder 		A 0.700 GeneticVariation GWASCAT Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression. 29700475 2018
dbSNP: rs10950398
rs10950398
Entrez Id: 54664
Gene Symbol: TMEM106B
TMEM106B
CUI: C2985280
Disease:
Blood Protein Measurement 		A 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs11509880
rs11509880
Entrez Id: 54664
Gene Symbol: TMEM106B
TMEM106B
CUI: C1956346
Disease:
Coronary Artery Disease 		A 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
dbSNP: rs3173615
rs3173615
Entrez Id: 54664
Gene Symbol: TMEM106B
TMEM106B
CUI: C0392885
Disease:
High density lipoprotein measurement 		C 0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
dbSNP: rs3173615
rs3173615
Entrez Id: 54664
Gene Symbol: TMEM106B
TMEM106B
CUI: C0202236
Disease:
Triglycerides measurement 		C 0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
dbSNP: rs3807865
rs3807865
Entrez Id: 54664
Gene Symbol: TMEM106B
TMEM106B
CUI: C1269683
Disease:
Major Depressive Disorder 		A 0.700 GeneticVariation GWASCAT Genome-wide association study of depression phenotypes in UK Biobank identifies variants in excitatory synaptic pathways. 29662059 2018
dbSNP: rs3823612
rs3823612
Entrez Id: 54664
Gene Symbol: TMEM106B
TMEM106B
CUI: C1269683
Disease:
Major Depressive Disorder 		C 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. 29942085 2018
dbSNP: rs5011432
rs5011432
Entrez Id: 54664
Gene Symbol: TMEM106B
TMEM106B
CUI: C1269683
Disease:
Major Depressive Disorder 		C 0.700 GeneticVariation GWASCAT Genome-wide association study of depression phenotypes in UK Biobank identifies variants in excitatory synaptic pathways. 29662059 2018
dbSNP: rs7791726
rs7791726
Entrez Id: 54664
Gene Symbol: TMEM106B
TMEM106B
CUI: C0338451
Disease:
Frontotemporal dementia 		G 0.700 GeneticVariation GWASCAT Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study. 29724592 2018
dbSNP: rs3173615
rs3173615
Entrez Id: 54664
Gene Symbol: TMEM106B
TMEM106B
CUI: C0338451
Disease:
Frontotemporal dementia 		0.030 GeneticVariation BEFREE Recent studies found that two polymorphisms (rs363371 and rs363324) in VMAT2 might be a risk factor for Parkinson's disease (PD) in Caucasians, while the two other variants (rs1990622 and rs3173615) in TMEM106B increased the risk for frontotemporal dementia (FTD). 28477711 2017
dbSNP: rs3173615
rs3173615
Entrez Id: 54664
Gene Symbol: TMEM106B
TMEM106B
CUI: C0338451
Disease:
Frontotemporal dementia 		0.030 GeneticVariation BEFREE The major allele of SNP rs3173615 is a risk factor in sporadic FTD, whereas the minor allele seems protective in GRN- and C9orf72-mediated FTD. 28888721 2017
dbSNP: rs3173615
rs3173615
Entrez Id: 54664
Gene Symbol: TMEM106B
TMEM106B
CUI: C0338451
Disease:
Frontotemporal dementia 		0.030 GeneticVariation BEFREE TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia. 23742080 2013
dbSNP: rs3173615
rs3173615
Entrez Id: 54664
Gene Symbol: TMEM106B
TMEM106B
CUI: C2750737
Disease:
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		0.020 GeneticVariation BEFREE Eighty-six deceased male athletes with a history of participation in American football, informant-reported Caucasian, and a positive postmortem diagnosis of CTE without comorbid neurodegenerative disease were genotyped for rs3173615. 30390709 2018
dbSNP: rs3173615
rs3173615
Entrez Id: 54664
Gene Symbol: TMEM106B
TMEM106B
CUI: C2750737
Disease:
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		0.020 GeneticVariation BEFREE There were no significant differences in genetic variants for those with CTE pathology, but we observed a slight increase in MAPT H1 haplotype, and there tended to be fewer homozygous carriers of the protective TMEM106B rs3173615 minor allele in those with sports exposure and CTE pathology compared to those without CTE pathology. 26518018 2015
dbSNP: rs3173615
rs3173615
Entrez Id: 54664
Gene Symbol: TMEM106B
TMEM106B
CUI: C0751072
Disease:
Frontotemporal Lobar Degeneration 		0.010 GeneticVariation BEFREE This variant is in high LD with the TMEM106B non-synonymous variant p.T185S (rs3173615; r<sup>2</sup> = 0.98) which was previously identified as a protective variant for frontotemporal lobar degeneration (FTLD). 31456032 2020
dbSNP: rs923630119
rs923630119
Entrez Id: 54664
Gene Symbol: TMEM106B
TMEM106B
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset 		0.010 GeneticVariation BEFREE In addition, a heterozygous p.Arg71Trp mutation in PSEN2 with an uncertain pathogenic nature was identified in a patient with neuropathologically confirmed AD. 31127772 2019