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: rs56984562
rs56984562
0.827 0.200 1 156137666 missense variant C/A;G;T snv
Hereditary Motor and Sensory-Neuropathy Type II
0.700 1.000 14 2003 2017
dbSNP: rs56984562
rs56984562
0.827 0.200 1 156137666 missense variant C/A;G;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 4 2003 2010
dbSNP: rs56984562
rs56984562
0.827 0.200 1 156137666 missense variant C/A;G;T snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.810 1.000 8 1999 2017