Source: ALL

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: rs104894727
rs104894727
TNNI3
0.882 0.080 19 55151881 missense variant C/A;T snv 4.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1057518905
rs1057518905
DPM3
1 155140104 missense variant A/T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1057519457
rs1057519457
SCN1B
19 35033599 missense variant A/T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs111033559
rs111033559
PLN ; CEP85L
0.925 0.040 6 118558946 missense variant C/T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs121908987
rs121908987
PRKAG2
0.742 0.200 7 151576412 missense variant C/A;G;T snv 4.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs121913628
rs121913628
MYH7
0.763 0.160 14 23424059 missense variant C/G;T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs121918070
rs121918070
TTR
1.000 0.120 18 31595157 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1242465339
rs1242465339
UQCRFS1
1.000 0.080 19 29207763 stop gained G/A;T snv 7.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs141735183
rs141735183
MYH7
14 23420222 stop gained C/A snv 8.2E-06 7.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1425855043
rs1425855043
PKP2
1.000 0.080 12 32878105 stop gained C/A snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs148515772
rs148515772
EMD
X 154380902 missense variant G/A snv 8.2E-05 8.5E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs148808089
rs148808089
MYH7
0.882 0.080 14 23429038 missense variant G/A snv 2.0E-05 1.4E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1553644307
rs1553644307
TTN ; TTN-AS1
0.925 0.160 2 178591418 stop gained T/A snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1553663867
rs1553663867
TTN ; TTN-AS1
0.925 0.160 2 178598969 frameshift variant G/- del
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1553707780
rs1553707780
TTN ; TTN-AS1
0.925 0.040 2 178616928 frameshift variant T/- del
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1554398705
rs1554398705
FLNC
7 128842906 frameshift variant -/C delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1555122928
rs1555122928
MYBPC3
1.000 0.080 11 47347434 frameshift variant C/- del
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1555142963
rs1555142963
PKP2
12 32822477 frameshift variant TCCTGCTTCGACTGCCAAAACAT/- delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1555144459
rs1555144459
PKP2
0.925 0.120 12 32841038 frameshift variant -/A delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1555661648
rs1555661648
AQP4 ; AQP4-AS1
0.882 0.240 18 26862297 missense variant C/G snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1559051231
rs1559051231
TTN ; TTN-AS1
2 178535728 stop gained C/T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1559192617
rs1559192617
TTN ; TTN-AS1
2 178550977 frameshift variant CTTGTCATAAT/- delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1559262463
rs1559262463
TTN ; TTN-AS1
2 178558000 frameshift variant A/- del
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1559448864
rs1559448864
TTN ; TTN-AS1
2 178575386 frameshift variant -/A delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0