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: rs587782958
rs587782958
MYBPC3
0.790 0.120 11 47333552 splice region variant C/T snv 1.7E-05
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: 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: rs397516002
rs397516002
MYBPC3
0.925 0.080 11 47333664 missense variant G/A;C;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: rs397516000
rs397516000
MYBPC3
0.882 0.080 11 47333682 missense variant C/G;T snv 2.4E-05; 4.1E-06
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 3 2005 2011
dbSNP: rs727504235
rs727504235
MYBPC3
0.925 0.080 11 47333742 missense variant C/T snv 5.5E-05 3.5E-05
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: 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: 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: 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: 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: 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: 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: 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: rs1565624196
rs1565624196
MYBPC3
1.000 0.080 11 47335181 frameshift variant C/- delins
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
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: 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: rs863225105
rs863225105
MYBPC3
1.000 0.080 11 47337443 frameshift variant G/- del
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
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: 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: rs752007810
rs752007810
MYBPC3
1.000 0.080 11 47337493 missense variant G/A snv 1.2E-05 2.1E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 4 2011 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
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: rs2856655
rs2856655
MYBPC3
0.851 0.080 11 47337534 missense variant C/G;T snv 2.0E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 0
dbSNP: rs775404728
rs775404728
MYBPC3
0.851 0.080 11 47337535 missense variant G/A snv 4.0E-06
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0