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: rs63750743
rs63750743
TMEM43
0.925 0.080 3 14141665 missense variant C/T snv
CUI: C1858379
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder) 		0.800 1.000 4 2008 2017
dbSNP: rs397514044
rs397514044
TMEM43
1.000 3 14130912 missense variant G/A snv 4.0E-06
CUI: C3553060
Disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT
EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT 		0.800 1.000 0 2011 2011
dbSNP: rs63750743
rs63750743
TMEM43
0.925 0.080 3 14141665 missense variant C/T snv
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.770 1.000 6 2008 2019
dbSNP: rs151010429
rs151010429
TMEM43
1.000 0.080 3 14130828 missense variant G/A;T snv 9.2E-05; 4.0E-06
CUI: C1858379
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder) 		0.700 0
dbSNP: rs778127887
rs778127887
TMEM43
3 14141613 stop gained C/T snv 1.6E-05 3.5E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0