SLC29A3, solute carrier family 29 member 3, 55315

N. diseases: 123; N. variants: 21
Disease: Histiocytosis with joint contractures and sensorineural deafness ×
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: rs121912583
rs121912583 		1.000 0.200 10 71362459 missense variant G/A snv 2.4E-05 2.1E-05
CUI: C1864445
Disease: Histiocytosis with joint contractures and sensorineural deafness
Histiocytosis with joint contractures and sensorineural deafness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.800 1.000 10 2008 2015
dbSNP: rs121912584
rs121912584 		1.000 0.200 10 71362489 missense variant G/A snv 4.8E-05 6.3E-05
CUI: C1864445
Disease: Histiocytosis with joint contractures and sensorineural deafness
Histiocytosis with joint contractures and sensorineural deafness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.800 1.000 10 2008 2017
dbSNP: rs267607057
rs267607057 		1.000 0.200 10 71344255 missense variant T/G snv 2.4E-05 7.7E-05
CUI: C1864445
Disease: Histiocytosis with joint contractures and sensorineural deafness
Histiocytosis with joint contractures and sensorineural deafness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.800 1.000 9 2008 2012
dbSNP: rs267607058
rs267607058 		1.000 0.200 10 71362526 missense variant C/G;T snv 1.6E-05; 3.2E-05
CUI: C1864445
Disease: Histiocytosis with joint contractures and sensorineural deafness
Histiocytosis with joint contractures and sensorineural deafness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.800 1.000 9 2008 2012
dbSNP: rs387907066
rs387907066 		1.000 0.200 10 71362268 missense variant G/A snv 8.0E-06
CUI: C1864445
Disease: Histiocytosis with joint contractures and sensorineural deafness
Histiocytosis with joint contractures and sensorineural deafness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.800 1.000 9 2008 2012
dbSNP: rs387907067
rs387907067 		1.000 0.200 10 71362267 missense variant C/T snv 4.8E-05 4.2E-05
CUI: C1864445
Disease: Histiocytosis with joint contractures and sensorineural deafness
Histiocytosis with joint contractures and sensorineural deafness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.800 1.000 9 2008 2012
dbSNP: rs1430557607
rs1430557607 		1.000 0.200 10 71351578 missense variant C/T snv 1.2E-05 3.5E-05
CUI: C1864445
Disease: Histiocytosis with joint contractures and sensorineural deafness
Histiocytosis with joint contractures and sensorineural deafness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 9 2008 2012
dbSNP: rs1023257012
rs1023257012 		1.000 0.200 10 71351728 missense variant A/C snv 4.0E-06
CUI: C1864445
Disease: Histiocytosis with joint contractures and sensorineural deafness
Histiocytosis with joint contractures and sensorineural deafness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs267607056
rs267607056 		1.000 0.200 10 71362510 stop gained G/T snv 2.8E-05 7.0E-06
CUI: C1864445
Disease: Histiocytosis with joint contractures and sensorineural deafness
Histiocytosis with joint contractures and sensorineural deafness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs397514626
rs397514626 		1.000 0.200 10 71351785 missense variant T/C snv 1.2E-05
CUI: C1864445
Disease: Histiocytosis with joint contractures and sensorineural deafness
Histiocytosis with joint contractures and sensorineural deafness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs397515429
rs397515429 		1.000 0.200 10 71362337 missense variant G/A snv 2.0E-05 1.4E-05
CUI: C1864445
Disease: Histiocytosis with joint contractures and sensorineural deafness
Histiocytosis with joint contractures and sensorineural deafness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs587780462
rs587780462 		1.000 0.200 10 71362408 stop gained C/T snv 1.6E-05 7.0E-06
CUI: C1864445
Disease: Histiocytosis with joint contractures and sensorineural deafness
Histiocytosis with joint contractures and sensorineural deafness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs587780463
rs587780463 		1.000 0.200 10 71323055 splice donor variant G/A;C snv 6.4E-05; 4.0E-06
CUI: C1864445
Disease: Histiocytosis with joint contractures and sensorineural deafness
Histiocytosis with joint contractures and sensorineural deafness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs746408350
rs746408350 		1.000 0.200 10 71322827 stop gained C/G;T snv 1.2E-05
CUI: C1864445
Disease: Histiocytosis with joint contractures and sensorineural deafness
Histiocytosis with joint contractures and sensorineural deafness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs776960135
rs776960135 		1.000 0.200 10 71351657 stop gained G/A snv 4.0E-06
CUI: C1864445
Disease: Histiocytosis with joint contractures and sensorineural deafness
Histiocytosis with joint contractures and sensorineural deafness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs796052139
rs796052139 		1.000 0.200 10 71344215 frameshift variant TT/- delins
CUI: C1864445
Disease: Histiocytosis with joint contractures and sensorineural deafness
Histiocytosis with joint contractures and sensorineural deafness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs869025176
rs869025176 		1.000 0.200 10 71362221 frameshift variant C/- delins
CUI: C1864445
Disease: Histiocytosis with joint contractures and sensorineural deafness
Histiocytosis with joint contractures and sensorineural deafness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs869025177
rs869025177 		1.000 0.200 10 71362120 frameshift variant T/- del
CUI: C1864445
Disease: Histiocytosis with joint contractures and sensorineural deafness
Histiocytosis with joint contractures and sensorineural deafness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 0