TTN-AS1, TTN antisense RNA 1, 100506866

N. diseases: 112; N. variants: 626
Disease: Centronuclear myopathy ×
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: rs1553742630
rs1553742630 		1.000 0.080 2 178633900 frameshift variant -/C ins
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs794729338
rs794729338 		1.000 0.080 2 178574146 stop gained CATATGC/TA delins
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2012 2012