NEXN, nexilin F-actin binding protein, 91624

N. diseases: 36; N. variants: 8
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137853197
rs137853197 		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 		Cardiovascular Diseases 0.800 1.000 1 2009 2009
dbSNP: rs137853198
rs137853198 		1.000 0.040 1 77942632 missense variant C/A snv
CUI: C2751084
Disease: Cardiomyopathy, Dilated, 1CC
Cardiomyopathy, Dilated, 1CC 		Cardiovascular Diseases 0.800 1.000 1 2009 2009
dbSNP: rs146245480
rs146245480 		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 1 2010 2010
dbSNP: rs387907079
rs387907079 		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 1 2010 2010
dbSNP: rs137853197
rs137853197 		0.925 0.040 1 77942756 missense variant A/G snv 7.2E-05 1.0E-04
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 1 2009 2009
dbSNP: rs9661687
rs9661687 		1 77921585 intron variant C/G;T snv
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs9661687
rs9661687 		1 77921585 intron variant C/G;T snv
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2019 2019
dbSNP: rs137853197
rs137853197 		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 		Cardiovascular Diseases 0.700 0
dbSNP: rs771262904
rs771262904 		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 		Cardiovascular Diseases 0.700 0
dbSNP: rs114020893
rs114020893 		0.882 0.080 1 77887920 non coding transcript exon variant T/C snv 0.50
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs114020893
rs114020893 		0.882 0.080 1 77887920 non coding transcript exon variant T/C snv 0.50
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs114020893
rs114020893 		0.882 0.080 1 77887920 non coding transcript exon variant T/C snv 0.50
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1780050
rs1780050 		1.000 0.040 1 77934855 intron variant A/C snv 0.37
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2013 2013