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: rs864622197
rs864622197
MYBPC3
0.925 0.080 11 47347065 intron variant C/T snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 1 2008 2008
dbSNP: rs397516083
rs397516083
MYBPC3
0.851 0.080 11 47346379 intron variant C/T snv 2.1E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs587776699
rs587776699
MYBPC3
0.925 0.080 11 47343281 intron variant C/T snv 2.6E-05 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: 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: 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: rs786204338
rs786204338
MYBPC3
1.000 0.080 11 47343021 stop gained C/A;G snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 20 1995 2017
dbSNP: rs387907267
rs387907267
MYBPC3
0.851 0.120 11 47335120 stop gained G/A snv 1.2E-05 2.8E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 6 2004 2015
dbSNP: rs121909377
rs121909377
MYBPC3
0.882 0.080 11 47333238 stop gained C/A;T snv 4.8E-06; 1.9E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 3 1999 2003
dbSNP: rs397515974
rs397515974
MYBPC3
0.882 0.080 11 47337452 stop gained G/A;C;T snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 1 2004 2004
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: rs11570112
rs11570112
MYBPC3
1.000 0.080 11 47333924 stop gained G/A;C snv 7.1E-03
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs193922386
rs193922386
MYBPC3
0.882 0.080 11 47346365 stop gained G/A;C;T snv 4.9E-06
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs368765949
rs368765949
MYBPC3
0.882 0.080 11 47332244 stop gained C/A;T snv 7.0E-06
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs397515992
rs397515992
MYBPC3
0.882 0.080 11 47335042 stop gained G/A snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs397516005
rs397516005
MYBPC3
0.827 0.120 11 47333566 stop gained G/A snv 8.4E-06 2.8E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs397516037
rs397516037
MYBPC3
0.851 0.120 11 47332189 stop gained G/A snv 8.0E-06
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs397516042
rs397516042
MYBPC3
0.827 0.120 11 47332075 stop gained G/A snv 8.1E-06 7.0E-06
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs863224483
rs863224483
MYBPC3
0.925 0.080 11 47339653 stop gained G/A snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs863225106
rs863225106
MYBPC3
1.000 0.080 11 47337732 stop gained G/A snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs863225112
rs863225112
MYBPC3
1.000 0.080 11 47337727 stop gained C/T snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
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: rs886037901
rs886037901
MYBPC3
1.000 0.080 11 47350572 stop gained -/TCAG delins
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
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: 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