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: rs794728589
rs794728589
1.000 0.080 1 156115275 splice donor variant G/A;C snv
Hereditary Motor and Sensory-Neuropathy Type II
0.700 1.000 4 2008 2013
dbSNP: rs794728589
rs794728589
1.000 0.080 1 156115275 splice donor variant G/A;C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 2 2012 2013