TMEM106B, transmembrane protein 106B, 54664

N. diseases: 126; N. variants: 13
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554310600
rs1554310600 		1.000 7 12231904 missense variant G/A snv
CUI: C4693779
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 16
LEUKODYSTROPHY, HYPOMYELINATING, 16 		0.800 1.000 2 2017 2018
dbSNP: rs10950393
rs10950393 		1.000 0.040 7 12223920 intron variant T/C snv 0.50
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs10950393
rs10950393 		1.000 0.040 7 12223920 intron variant T/C snv 0.50
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs10950398
rs10950398 		1.000 0.040 7 12225245 intron variant G/A snv 0.52
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs10950398
rs10950398 		1.000 0.040 7 12225245 intron variant G/A snv 0.52
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs11509137
rs11509137 		7 12224173 intron variant T/C snv 0.50
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs11509880
rs11509880 		1.000 0.040 7 12222285 intron variant G/A snv 0.46
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2043539
rs2043539 		1.000 0.040 7 12214254 5 prime UTR variant G/A snv 0.50
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs3173615
rs3173615 		0.807 0.200 7 12229791 missense variant C/A;G snv 0.49
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3173615
rs3173615 		0.807 0.200 7 12229791 missense variant C/A;G snv 0.49
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3807865
rs3807865 		1.000 0.040 7 12210776 upstream gene variant G/A snv 0.48
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs3823612
rs3823612 		1.000 0.040 7 12219129 intron variant G/A;C snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs5011432
rs5011432 		1.000 0.040 7 12229042 intron variant A/C;G;T snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs7791726
rs7791726 		1.000 0.120 7 12243703 downstream gene variant G/C snv 0.52
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs3173615
rs3173615 		0.807 0.200 7 12229791 missense variant C/A;G snv 0.49
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.030 1.000 3 2013 2017
dbSNP: rs3173615
rs3173615 		0.807 0.200 7 12229791 missense variant C/A;G snv 0.49
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases 0.020 1.000 2 2015 2018
dbSNP: rs3173615
rs3173615 		0.807 0.200 7 12229791 missense variant C/A;G snv 0.49
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs3173615
rs3173615 		0.807 0.200 7 12229791 missense variant C/A;G snv 0.49
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3173615
rs3173615 		0.807 0.200 7 12229791 missense variant C/A;G snv 0.49
CUI: C0040822
Disease: Tremor
Tremor 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3173615
rs3173615 		0.807 0.200 7 12229791 missense variant C/A;G snv 0.49
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3173615
rs3173615 		0.807 0.200 7 12229791 missense variant C/A;G snv 0.49
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3173615
rs3173615 		0.807 0.200 7 12229791 missense variant C/A;G snv 0.49
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2020 2020
dbSNP: rs3173615
rs3173615 		0.807 0.200 7 12229791 missense variant C/A;G snv 0.49
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3173615
rs3173615 		0.807 0.200 7 12229791 missense variant C/A;G snv 0.49
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs6966915
rs6966915 		1.000 0.080 7 12226362 intron variant C/A;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015