Disease: Bone Fragility with Contractures, Arterial Rupture, and 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: rs121434414
rs121434414 		1.000 0.120 7 101215100 missense variant T/C snv 8.0E-06 1.4E-05
CUI: C2676285
Disease: Bone Fragility with Contractures, Arterial Rupture, and Deafness
Bone Fragility with Contractures, Arterial Rupture, and Deafness 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.800 1.000 3 2008 2019
dbSNP: rs748105435
rs748105435 		1.000 0.120 7 101207623 stop gained A/C snv 2.0E-05
CUI: C2676285
Disease: Bone Fragility with Contractures, Arterial Rupture, and Deafness
Bone Fragility with Contractures, Arterial Rupture, and Deafness 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 1 2008 2008
dbSNP: rs1562894320
rs1562894320 		1.000 0.120 7 101212912 missense variant G/A snv
CUI: C2676285
Disease: Bone Fragility with Contractures, Arterial Rupture, and Deafness
Bone Fragility with Contractures, Arterial Rupture, and Deafness 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs786205872
rs786205872 		1.000 0.120 7 101206427 frameshift variant A/- del
CUI: C2676285
Disease: Bone Fragility with Contractures, Arterial Rupture, and Deafness
Bone Fragility with Contractures, Arterial Rupture, and Deafness 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0