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: rs397517889
rs397517889
0.925 0.120 1 156136093 missense variant C/T snv 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 14 2000 2014
dbSNP: rs397517889
rs397517889
0.925 0.120 1 156136093 missense variant C/T snv 7.0E-06
Hereditary Motor and Sensory-Neuropathy Type II
0.700 1.000 9 2003 2014
dbSNP: rs397517889
rs397517889
0.925 0.120 1 156136093 missense variant C/T snv 7.0E-06
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.700 0