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: rs397516248
rs397516248
0.851 0.200 14 23415153 missense variant C/T snv
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1
0.710 1.000 1 2009 2015
dbSNP: rs397516248
rs397516248
0.851 0.200 14 23415153 missense variant C/T snv
Left ventricular noncompaction cardiomyopathy
0.700 1.000 2 2009 2014
dbSNP: rs397516248
rs397516248
0.851 0.200 14 23415153 missense variant C/T snv
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
0.700 1.000 4 2009 2015
dbSNP: rs397516248
rs397516248
0.851 0.200 14 23415153 missense variant C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 4 2009 2015
dbSNP: rs397516248
rs397516248
0.851 0.200 14 23415153 missense variant C/T snv
Cardiomyopathy, Hypertrophic, Familial
0.700 1.000 7 2009 2017