TMEM43, transmembrane protein 43, 79188

N. diseases: 78; N. variants: 5
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: rs778127887
rs778127887 		3 14141613 stop gained C/T snv 1.6E-05 3.5E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs63750743
rs63750743 		0.925 0.080 3 14141665 missense variant C/T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.010 1.000 1 2019 2019