Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553742630
rs1553742630
TTN ; TTN-AS1
1.000 0.080 2 178633900 frameshift variant -/C ins
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.700 1.000 1 2015 2015
dbSNP: rs1553742630
rs1553742630
TTN ; TTN-AS1
1.000 0.080 2 178633900 frameshift variant -/C ins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2015 2015