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: rs768079285
rs768079285
NEBL
1.000 0.080 10 20840824 frameshift variant T/- delins 8.0E-06
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		0.700 0
dbSNP: rs768079285
rs768079285
NEBL
1.000 0.080 10 20840824 frameshift variant T/- delins 8.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0