TTC21B-AS1, TTC21B antisense RNA 1, 100506134

N. diseases: 11; N. variants: 6
Disease: Jeune thoracic dystrophy ×
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: rs140511594
rs140511594 		0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 2 2011 2014
dbSNP: rs150742619
rs150742619 		1.000 0.120 2 165941034 missense variant C/G snv 6.3E-05
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs777162250
rs777162250 		1.000 0.120 2 165941053 stop gained C/T snv 8.0E-06
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0