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: rs59270054
rs59270054
0.925 0.120 1 156115162 missense variant G/A;C snv
Hereditary Motor and Sensory-Neuropathy Type II
0.700 1.000 4 2006 2010
dbSNP: rs59270054
rs59270054
0.925 0.120 1 156115162 missense variant G/A;C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.720 1.000 6 2005 2010