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: rs121909374
rs121909374
MYBPC3
0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 1.000 56 1990 2017
dbSNP: rs397516074
rs397516074
MYBPC3
0.827 0.120 11 47348424 missense variant C/T snv 1.7E-05 4.2E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 1.000 52 1995 2017
dbSNP: rs573916965
rs573916965
MYBPC3
0.827 0.080 11 47346297 stop gained C/A;T snv 2.5E-04
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 1.000 32 1995 2017
dbSNP: rs36211723
rs36211723
MYBPC3
0.851 0.080 11 47338520 missense variant C/G;T snv 1.6E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 1.000 26 1995 2017
dbSNP: rs121909375
rs121909375
MYBPC3
1.000 0.080 11 47351356 missense variant T/C snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 1.000 24 1995 2017
dbSNP: rs199865688
rs199865688
MYBPC3
0.925 0.080 11 47337496 missense variant C/T snv 1.5E-03 1.2E-03
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 1.000 24 1995 2017
dbSNP: rs371401403
rs371401403
MYBPC3
0.807 0.080 11 47335996 missense variant G/A;T snv 6.8E-05; 7.9E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 24 1995 2017
dbSNP: rs376461745
rs376461745
MYBPC3
1.000 0.080 11 47347860 missense variant C/A;T snv 5.7E-06; 9.2E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 24 1995 2017
dbSNP: rs397514752
rs397514752
MYBPC3
1.000 0.080 11 47342733 missense variant C/A;T snv 4.0E-06
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 1.000 24 1995 2017
dbSNP: rs397515956
rs397515956
MYBPC3
1.000 0.080 11 47338631 missense variant G/A;T snv 6.0E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 24 1995 2017
dbSNP: rs397516053
rs397516053
MYBPC3
0.925 0.080 11 47350038 missense variant G/A;T snv 5.8E-06; 5.8E-06
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 1.000 24 1995 2017
dbSNP: rs397515907
rs397515907
MYBPC3
0.882 0.080 11 47342697 missense variant C/A;T snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 1.000 21 1995 2017
dbSNP: rs1060501474
rs1060501474
MYBPC3
0.925 0.080 11 47338563 missense variant G/T snv 4.0E-06
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 20 1995 2017
dbSNP: rs121909376
rs121909376
MYBPC3
0.925 0.080 11 47335104 missense variant T/C;G snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 20 1995 2017
dbSNP: rs1393559112
rs1393559112
MYBPC3
1.000 0.080 11 47332967 missense variant A/T snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 20 1995 2017
dbSNP: rs1444087775
rs1444087775
MYBPC3
1.000 0.080 11 47348430 missense variant C/T snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 20 1995 2017
dbSNP: rs1460895809
rs1460895809
MYBPC3
1.000 0.080 11 47346242 missense variant A/G snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 20 1995 2017
dbSNP: rs1800565
rs1800565
MYBPC3
1.000 0.080 11 47339757 missense variant C/T snv 2.4E-05 7.0E-06
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 20 1995 2017
dbSNP: rs193922380
rs193922380
MYBPC3
1.000 0.080 11 47335077 missense variant G/A;C snv 1.0E-03 8.7E-04
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 20 1995 2017
dbSNP: rs201278114
rs201278114
MYBPC3
0.925 0.120 11 47352635 missense variant C/A;G snv 4.3E-06; 3.0E-04
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 20 1995 2017
dbSNP: rs202147520
rs202147520
MYBPC3
1.000 0.080 11 47332144 missense variant C/T snv 3.2E-05 7.0E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 20 1995 2017
dbSNP: rs35736435
rs35736435
MYBPC3
1.000 0.080 11 47342683 missense variant C/T snv 6.0E-04 1.7E-03
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 20 1995 2017
dbSNP: rs370890951
rs370890951
MYBPC3
1.000 0.080 11 47332912 missense variant A/G snv 8.0E-04 7.5E-04
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 20 1995 2017
dbSNP: rs371061770
rs371061770
MYBPC3
0.882 0.080 11 47333610 missense variant G/A;C snv 6.6E-05 4.2E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 20 1995 2017
dbSNP: rs3729952
rs3729952
MYBPC3
1.000 0.080 11 47337495 missense variant G/A snv 2.0E-03 7.4E-03
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 20 1995 2017