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: rs56816490
rs56816490
0.925 0.120 1 156135913 stop gained G/A;T snv
Hereditary Motor and Sensory-Neuropathy Type II
0.700 1.000 4 2002 2017
dbSNP: rs56816490
rs56816490
0.925 0.120 1 156135913 stop gained G/A;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 3 2002 2009
dbSNP: rs56816490
rs56816490
0.925 0.120 1 156135913 stop gained G/A;T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 0