rs3173615, TMEM106B

N. diseases: 12
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
High density lipoprotein measurement
0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
Triglycerides measurement
CUI: C0202236
Disease: Triglycerides measurement
0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
Frontotemporal dementia
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
Frontotemporal dementia
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
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.030 GeneticVariation BEFREE TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia. 23742080 2013
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
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
Frontotemporal Lobar Degeneration
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
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
0.010 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
Muscle Rigidity
CUI: C0026837
Disease: Muscle Rigidity
0.010 GeneticVariation BEFREE In this Chinese patient population, "GG" of rs363371 in VMAT2 may reduce the risk for SALS, while minor alleles of rs1990622 and rs3173615 in TMEM106B may be associated with PD patients with initial symptom of rigidity/bradykinesia. 28477711 2017
Tremor
CUI: C0040822
Disease: Tremor
0.010 GeneticVariation BEFREE The frequencies of minor alleles for rs1990622 and rs3173615 in TMEM106B were significantly different between PD patients with initial symptoms of tremor and rigidity/bradykinesia (p=0.001), and between patients with initial symptom of rigidity/bradykinesia and HCs (p<0.001). 28477711 2017
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.010 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
Bradykinesia
CUI: C0233565
Disease: Bradykinesia
0.010 GeneticVariation BEFREE In this Chinese patient population, "GG" of rs363371 in VMAT2 may reduce the risk for SALS, while minor alleles of rs1990622 and rs3173615 in TMEM106B may be associated with PD patients with initial symptom of rigidity/bradykinesia. 28477711 2017
Motor Neuron Disease
CUI: C0085084
Disease: Motor Neuron Disease
0.010 GeneticVariation BEFREE We assessed the genotype of 325 C9ORF72 expansion carriers (cohort 1), 586 FTD patients lacking C9ORF72 expansions [with or without motor neuron disease (MND); cohort 2], and a total of 1,302 controls for TMEM106B variants (rs3173615 and rs1990622) using MassArray iPLEX and Taqman genotyping assays. 24385136 2014
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
0.010 GeneticVariation BEFREE TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia. 23742080 2013