TBL1XR1, TBL1X receptor 1, 79718

N. diseases: 195; N. variants: 16
Disease: Plantar Lipomatosis, Unusual Facies, and Developmental Delay ×
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: 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: 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: 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