EMD, emerin, 2010

N. diseases: 163; N. variants: 29
Disease: Cardiomyopathies ×
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: rs148515772
rs148515772 		X 154380902 missense variant G/A snv 8.2E-05 8.5E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs2070818
rs2070818 		X 154380798 missense variant G/C snv 4.6E-04 2.1E-04
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs267606782
rs267606782 		0.925 0.120 X 154379485 start lost A/G snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs782222974
rs782222974 		X 154379710 stop gained G/A;T snv 2.3E-05; 1.1E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.010 1.000 1 2019 2019