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: rs397516059
rs397516059
MYBPC3
0.851 0.080 11 47349876 frameshift variant -/A delins 8.2E-06
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs730880341
rs730880341
MYBPC3
0.925 0.080 11 47337708 frameshift variant -/A delins
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs786204329
rs786204329
MYBPC3
0.925 0.080 11 47348494 frameshift variant -/AAGGCAGGCTGGGCATCGGTGATGTG delins
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs397515963
rs397515963
MYBPC3
0.851 0.080 11 47337729 frameshift variant -/C delins 2.1E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 1 2009 2009
dbSNP: rs863225104
rs863225104
MYBPC3
1.000 0.080 11 47335943 frameshift variant -/C delins
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs193922384
rs193922384
MYBPC3
0.882 0.080 11 47332126 inframe insertion -/CAGACATAGATGCCCCCG delins 2.8E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs863225114
rs863225114
MYBPC3
1.000 0.080 11 47332889 frameshift variant -/G delins
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs863225111
rs863225111
MYBPC3
1.000 0.080 11 47351303 frameshift variant -/T delins
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: rs730880684
rs730880684
MYBPC3
1.000 0.080 11 47347447 frameshift variant A/- delins
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs863225107
rs863225107
MYBPC3
1.000 0.080 11 47332224 frameshift variant A/- del
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs387906397
rs387906397
MYBPC3
0.851 0.080 11 47333192 splice donor variant A/C;G snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs187830361
rs187830361
MYBPC3
0.882 0.080 11 47337729 missense variant A/C;G;T snv 1.7E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
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: 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: rs730880695
rs730880695
MYBPC3
1.000 0.080 11 47342085 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: rs397516028
rs397516028
MYBPC3
1.000 0.080 11 47332594 missense variant A/G snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 1 2012 2012
dbSNP: rs397515897
rs397515897
MYBPC3
0.882 0.080 11 47343019 splice donor variant A/G snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
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: rs730880709
rs730880709
MYBPC3
1.000 0.080 11 47346272 missense variant A/T snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs397516080
rs397516080
MYBPC3
0.882 0.080 11 47346639 frameshift variant AA/- delins
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs397515973
rs397515973
MYBPC3
0.925 0.080 11 47337455 frameshift variant ACGCG/- delins
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs397515990
rs397515990
MYBPC3
0.851 0.080 11 47335082 frameshift variant AG/- del 7.0E-06
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 2 2010 2011
dbSNP: rs886041031
rs886041031
MYBPC3
1.000 0.080 11 47332224 frameshift variant AGGT/GCCATTCTTGAA delins
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs1555122928
rs1555122928
MYBPC3
1.000 0.080 11 47347434 frameshift variant C/- del
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0