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: rs137853197
rs137853197
NEXN
0.925 0.040 1 77942756 missense variant A/G snv 7.2E-05 1.0E-04
CUI: C2751084
Disease: Cardiomyopathy, Dilated, 1CC
Cardiomyopathy, Dilated, 1CC 		0.800 1.000 0 2009 2009
dbSNP: rs137853198
rs137853198
NEXN
1.000 0.040 1 77942632 missense variant C/A snv
CUI: C2751084
Disease: Cardiomyopathy, Dilated, 1CC
Cardiomyopathy, Dilated, 1CC 		0.800 1.000 0 2009 2009
dbSNP: rs146245480
rs146245480
NEXN
1.000 1 77926863 missense variant C/A;T snv 1.6E-05; 5.4E-04
CUI: C3151267
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20 		0.800 1.000 0 2010 2010
dbSNP: rs387907079
rs387907079
NEXN
1.000 1 77918217 missense variant C/G snv 4.0E-06 7.0E-06
CUI: C3151267
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20 		0.800 1.000 0 2010 2010
dbSNP: rs137853197
rs137853197
NEXN
0.925 0.040 1 77942756 missense variant A/G snv 7.2E-05 1.0E-04
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2009 2009
dbSNP: rs137853197
rs137853197
NEXN
0.925 0.040 1 77942756 missense variant A/G snv 7.2E-05 1.0E-04
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		0.700 0
dbSNP: rs771262904
rs771262904
NEXN
1.000 0.040 1 77926827 stop gained G/T snv 4.0E-06 7.0E-06
CUI: C2751084
Disease: Cardiomyopathy, Dilated, 1CC
Cardiomyopathy, Dilated, 1CC 		0.700 0