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: rs397517906
rs397517906
LMNA
0.925 0.080 1 156134890 missense variant C/T snv 8.0E-06
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 1.000 2 2018 2019
dbSNP: rs111344408
rs111344408
TNNT2
1.000 0.040 1 201363407 splice acceptor variant C/A;G snv
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 0
dbSNP: rs1131691655
rs1131691655
TTN ; TTN-AS1
1.000 0.040 2 178609769 stop gained G/C snv
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 0
dbSNP: rs121909374
rs121909374
MYBPC3
0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 0
dbSNP: rs1263987728
rs1263987728
MYH6
1.000 0.040 14 23404296 missense variant A/C snv 7.0E-06
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 0
dbSNP: rs1417036453
rs1417036453
SCN5A
0.925 0.080 3 38603999 stop gained G/A snv 4.0E-06
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 0
dbSNP: rs1553692290
rs1553692290
TTN ; TTN-AS1
1.000 0.040 2 178609842 stop gained C/T snv
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 0
dbSNP: rs267607004
rs267607004
RBM20
0.925 0.040 10 110812304 missense variant G/A snv 1.4E-05
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 0
dbSNP: rs267607560
rs267607560
LMNA
0.925 0.040 1 156115192 missense variant C/T snv 7.0E-06
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 0
dbSNP: rs3218716
rs3218716
MYH7
0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 0
dbSNP: rs371678190
rs371678190
TTN ; TTN-AS1
1.000 0.040 2 178578066 stop gained G/A;T snv 4.0E-06; 5.6E-05
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 0
dbSNP: rs397516059
rs397516059
MYBPC3
0.851 0.080 11 47349876 frameshift variant -/A delins 8.2E-06
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 0
dbSNP: rs397516165
rs397516165
MYH7
0.925 0.080 14 23424118 missense variant C/G;T snv
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 0
dbSNP: rs397516465
rs397516465
TNNT2
1.000 0.040 1 201364342 missense variant G/A;T snv 4.0E-06
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 0
dbSNP: rs397517689
rs397517689
TTN ; TTN-AS1
0.882 0.160 2 178574530 stop gained G/A snv 4.0E-06
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 0
dbSNP: rs57730570
rs57730570
LMNA
1.000 0.040 1 156137118 stop gained G/A;T snv
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 0
dbSNP: rs61094188
rs61094188
LMNA
0.925 0.160 1 156136257 missense variant C/A;T snv 7.6E-05
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 0
dbSNP: rs72648250
rs72648250
TTN ; TTN-AS1
0.882 0.160 2 178548460 stop gained G/A;T snv 4.0E-06; 8.1E-06
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 0
dbSNP: rs727503533
rs727503533
TTN ; TTN-AS1
1.000 0.040 2 178531665 frameshift variant C/- del
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 0
dbSNP: rs727503607
rs727503607
TTN ; TTN-AS1
0.882 0.160 2 178605642 stop gained C/A snv
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 0
dbSNP: rs727504237
rs727504237
MYH7
0.882 0.080 14 23428529 missense variant G/T snv
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 0
dbSNP: rs727504488
rs727504488
TNNT2
1.000 0.040 1 201361305 missense variant C/T snv
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 0
dbSNP: rs727504801
rs727504801
SCN5A
0.925 0.080 3 38560397 frameshift variant G/- delins
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 0
dbSNP: rs727504856
rs727504856
TTN ; TTN-AS1
1.000 0.040 2 178559330 frameshift variant CTTT/- del
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 0
dbSNP: rs730880365
rs730880365
TTN ; TTN-AS1
1.000 0.040 2 178549998 frameshift variant -/T delins 8.1E-06
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 0