MYBPC3, myosin binding protein C3, 4607

N. diseases: 100; N. variants: 418
Disease: LEFT VENTRICULAR NONCOMPACTION 10 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs199865688
rs199865688 		0.925 0.080 11 47337496 missense variant C/T snv 1.5E-03 1.2E-03
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.800 1.000 1 2010 2010
dbSNP: rs397514751
rs397514751 		1.000 11 47332095 missense variant C/A;T snv
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.800 1.000 1 2010 2010
dbSNP: rs121909374
rs121909374 		0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 1.000 4 1997 2013
dbSNP: rs371401403
rs371401403 		0.807 0.080 11 47335996 missense variant G/A;T snv 6.8E-05; 7.9E-05
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 1.000 1 2011 2011
dbSNP: rs1060499604
rs1060499604 		0.851 0.080 11 47339323 splice donor variant C/A;T snv 4.0E-06
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 0
dbSNP: rs121909376
rs121909376 		0.925 0.080 11 47335104 missense variant T/C;G snv
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 0
dbSNP: rs200411226
rs200411226 		0.851 0.080 11 47342718 missense variant C/T snv 2.4E-05 4.2E-05
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 0
dbSNP: rs200625851
rs200625851 		0.925 0.080 11 47342734 missense variant C/G;T snv 4.0E-06; 2.2E-04
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 0
dbSNP: rs36211723
rs36211723 		0.851 0.080 11 47338520 missense variant C/G;T snv 1.6E-05
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 0
dbSNP: rs36212066
rs36212066 		0.882 0.080 11 47332275 intron variant AGGGAAGCCATCCAGGCTGAGAGGG/- delins 4.0E-03 8.9E-04
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 0
dbSNP: rs371488302
rs371488302 		0.925 0.080 11 47337792 missense variant C/T snv 4.0E-05 3.5E-05
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 0
dbSNP: rs373746463
rs373746463 		0.851 0.080 11 47333189 splice region variant C/A;G;T snv 1.8E-05; 4.4E-06
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 0
dbSNP: rs397515925
rs397515925 		0.925 0.040 11 47351344 frameshift variant TGCCCTCTGTG/- delins 7.0E-06
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 0
dbSNP: rs397515937
rs397515937 		0.851 0.080 11 47339792 splice acceptor variant T/C snv
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 0
dbSNP: rs397515990
rs397515990 		0.851 0.080 11 47335082 frameshift variant AG/- del 7.0E-06
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 0
dbSNP: rs397516042
rs397516042 		0.827 0.120 11 47332075 stop gained G/A snv 8.1E-06 7.0E-06
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 0
dbSNP: rs397516074
rs397516074 		0.827 0.120 11 47348424 missense variant C/T snv 1.7E-05 4.2E-05
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 0
dbSNP: rs397516083
rs397516083 		0.851 0.080 11 47346379 intron variant C/T snv 2.1E-05
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 0
dbSNP: rs587782958
rs587782958 		0.790 0.120 11 47333552 splice region variant C/T snv 1.7E-05
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 0
dbSNP: rs727503188
rs727503188 		0.882 0.080 11 47337544 missense variant G/A snv 4.0E-06
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10 		0.700 0