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: rs730880674
rs730880674
MYBPC3
0.882 0.080 11 47332895 inframe deletion TAG/- delins 7.0E-06
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs397516070
rs397516070
MYBPC3
0.882 0.080 11 47348486 missense variant T/G snv
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: rs890299857
rs890299857
MYBPC3
1.000 0.080 11 47348426 missense variant T/C;G snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
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: rs397515937
rs397515937
MYBPC3
0.851 0.080 11 47339792 splice acceptor variant T/C snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 3 1995 2014
dbSNP: rs1338707268
rs1338707268
MYBPC3
1.000 0.080 11 47337561 missense variant T/C snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs376395543
rs376395543
MYBPC3
0.882 0.080 11 47351507 splice acceptor variant T/C snv 2.7E-05 2.1E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs397516082
rs397516082
MYBPC3
0.882 0.080 11 47346372 splice acceptor variant T/C snv 5.1E-06
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs727503177
rs727503177
MYBPC3
1.000 0.080 11 47333923 missense variant T/C snv 7.0E-06
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs886041030
rs886041030
MYBPC3
1.000 0.080 11 47337820 intron variant T/C snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs1114167419
rs1114167419
MYBPC3
1.000 0.080 11 47343261 stop gained T/A snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs1172145591
rs1172145591
MYBPC3
1.000 0.080 11 47341224 missense variant T/A snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs1555121488
rs1555121488
MYBPC3
0.925 0.080 11 47338681 splice acceptor variant T/- del
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs397515926
rs397515926
MYBPC3
0.882 0.080 11 47341235 frameshift variant T/- delins 4.9E-06
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs727503166
rs727503166
MYBPC3
0.851 0.080 11 47332110 frameshift variant T/- del
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs727503203
rs727503203
MYBPC3
0.882 0.080 11 47342929 frameshift variant GG/-;GGG delins
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
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: rs863225113
rs863225113
MYBPC3
1.000 0.080 11 47333224 stop gained G/T snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
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: 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: rs376504548
rs376504548
MYBPC3
1.000 0.080 11 47335074 missense variant G/A;T snv 9.8E-05 2.4E-04
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 20 1995 2017
dbSNP: rs730880694
rs730880694
MYBPC3
1.000 0.080 11 47342096 missense variant G/A;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: rs727504234
rs727504234
MYBPC3
1.000 0.080 11 47347658 missense variant G/A;T snv 1.1E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0