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
0.878 0.143 1 156136093 missense variant C/T snp
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 15 2000 2015
dbSNP: rs397517889
rs397517889
0.878 0.143 1 156136093 missense variant C/T snp
Hereditary Motor and Sensory-Neuropathy Type II
0.700 1 2017 2017
dbSNP: rs397517889
rs397517889
0.878 0.143 1 156136093 missense variant C/T snp
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.700 0
dbSNP: rs397517889
rs397517889
0.878 0.143 1 156136093 missense variant C/T snp
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.700 0