TBL1XR1, TBL1X receptor 1, 79718

N. diseases: 195; N. variants: 16
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: rs878854402
rs878854402 		0.851 0.280 3 177033050 missense variant T/C snv
CUI: C1865644
Disease: Plantar Lipomatosis, Unusual Facies, and Developmental Delay
Plantar Lipomatosis, Unusual Facies, and Developmental Delay 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Mental Disorders 0.820 1.000 3 2016 2018
dbSNP: rs878854401
rs878854401 		1.000 3 177047518 missense variant T/C snv
CUI: C4310784
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 41
MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 		0.800 1.000 4 2012 2016
dbSNP: rs786205859
rs786205859 		1.000 3 177051722 missense variant C/T snv
CUI: C4310784
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 41
MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 		0.800 0
dbSNP: rs1553810244
rs1553810244 		1.000 3 177038369 missense variant T/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 10 2012 2017
dbSNP: rs1553810244
rs1553810244 		1.000 3 177038369 missense variant T/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 2012 2017
dbSNP: rs7626218
rs7626218 		0.925 0.080 3 177134250 intron variant A/T snv 0.41
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 2 2019 2019
dbSNP: rs58823914
rs58823914 		3 177195720 intron variant C/A snv 0.57
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs62296577
rs62296577 		1.000 0.080 3 177131952 intron variant C/A;T snv
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs6804442
rs6804442 		3 177191873 intron variant A/G snv 0.62
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs7426956
rs7426956 		1.000 0.080 3 177177049 intron variant C/A;T snv
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009
dbSNP: rs7617950
rs7617950 		3 177156592 intron variant A/T snv 0.40
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs7617950
rs7617950 		3 177156592 intron variant A/T snv 0.40
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs7626218
rs7626218 		0.925 0.080 3 177134250 intron variant A/T snv 0.41
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs7626218
rs7626218 		0.925 0.080 3 177134250 intron variant A/T snv 0.41
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1135401760
rs1135401760 		1.000 3 177038383 missense variant C/A snv
CUI: C4310784
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 41
MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 		0.700 0
dbSNP: rs1553808301
rs1553808301 		0.925 0.160 3 177033051 missense variant A/C;G snv
CUI: C4310784
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 41
MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 		0.700 0
dbSNP: rs1553808301
rs1553808301 		0.925 0.160 3 177033051 missense variant A/C;G snv
CUI: C1865644
Disease: Plantar Lipomatosis, Unusual Facies, and Developmental Delay
Plantar Lipomatosis, Unusual Facies, and Developmental Delay 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Mental Disorders 0.700 0
dbSNP: rs1553810255
rs1553810255 		0.925 0.160 3 177038386 missense variant C/T snv
CUI: C4310784
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 41
MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 		0.700 0
dbSNP: rs1553810255
rs1553810255 		0.925 0.160 3 177038386 missense variant C/T snv
CUI: C1865644
Disease: Plantar Lipomatosis, Unusual Facies, and Developmental Delay
Plantar Lipomatosis, Unusual Facies, and Developmental Delay 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Mental Disorders 0.700 0
dbSNP: rs1553813646
rs1553813646 		1.000 3 177046179 frameshift variant -/T delins
CUI: C4310784
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 41
MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 		0.700 0
dbSNP: rs1560098548
rs1560098548 		1.000 0.160 3 177033000 missense variant C/T snv
CUI: C1865644
Disease: Plantar Lipomatosis, Unusual Facies, and Developmental Delay
Plantar Lipomatosis, Unusual Facies, and Developmental Delay 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Mental Disorders 0.700 0
dbSNP: rs878854402
rs878854402 		0.851 0.280 3 177033050 missense variant T/C snv
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs878854402
rs878854402 		0.851 0.280 3 177033050 missense variant T/C snv
CUI: C0265563
Disease: Congenital dislocation of radial head
Congenital dislocation of radial head 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs878854402
rs878854402 		0.851 0.280 3 177033050 missense variant T/C snv
CUI: C4022453
Disease: Abnormal morphology of ulna
Abnormal morphology of ulna 		0.700 0
dbSNP: rs878854402
rs878854402 		0.851 0.280 3 177033050 missense variant T/C snv
CUI: C4021750
Disease: Abnormality of femur morphology
Abnormality of femur morphology 		0.700 0