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
0.846 0.179 1 156137666 missense variant C/A,G,T snp
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.810 1.000 6 2004 2016
dbSNP: rs56984562
rs56984562
0.846 0.179 1 156137666 missense variant C/A,G,T snp
Hereditary Motor and Sensory-Neuropathy Type II
0.700 9 2004 2017
dbSNP: rs56984562
rs56984562
0.846 0.179 1 156137666 missense variant C/A,G,T snp
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 5 2004 2013