MYBPC3, myosin binding protein C3, 4607

N. diseases: 100; N. variants: 418
Disease: Cardiomyopathies ×
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: rs1555122928
rs1555122928 		1.000 0.080 11 47347434 frameshift variant C/- del
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs1565623093
rs1565623093 		11 47333209 frameshift variant G/- delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs1565623439
rs1565623439 		11 47333627 frameshift variant TGAAT/- del
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs1565623713
rs1565623713 		11 47333996 frameshift variant -/A delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs1565626367
rs1565626367 		11 47339656 frameshift variant -/ATAG delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs1565627110
rs1565627110 		11 47341145 frameshift variant G/- del
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs1565627145
rs1565627145 		11 47341183 frameshift variant -/C delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs1565628520
rs1565628520 		11 47343585 stop gained -/GCTCACCTGGTAGGCCGGCTCCAGCTTCT delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs1565631430
rs1565631430 		1.000 0.080 11 47350600 frameshift variant ATGGGCTCTG/- del
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs367947846
rs367947846 		1.000 0.040 11 47346298 stop gained G/A;C snv 7.7E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs368121566
rs368121566 		1.000 0.080 11 47347480 splice acceptor variant C/A;T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs397515889
rs397515889 		0.925 0.080 11 47343547 frameshift variant G/-;GG delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs397515903
rs397515903 		0.925 0.080 11 47342745 splice acceptor variant C/G;T snv 4.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs397515905
rs397515905 		0.851 0.080 11 47342719 missense variant G/A;C;T snv 4.0E-06; 8.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs397515934
rs397515934 		0.925 0.080 11 47341140 frameshift variant A/- del
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs397515960
rs397515960 		0.925 0.080 11 47337791 frameshift variant -/C delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs397515973
rs397515973 		0.925 0.080 11 47337455 frameshift variant ACGCG/- delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs397516028
rs397516028 		1.000 0.080 11 47332594 missense variant A/G snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs397516029
rs397516029 		0.882 0.080 11 47332569 frameshift variant G/-;GG delins 4.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs397516049
rs397516049 		0.925 0.080 11 47350082 frameshift variant -/T delins 3.0E-05 7.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs397516059
rs397516059 		0.851 0.080 11 47349876 frameshift variant -/A delins 8.2E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs397516077
rs397516077 		0.925 0.080 11 47347852 splice region variant C/T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs727503166
rs727503166 		0.851 0.080 11 47332110 frameshift variant T/- del
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs727503172
rs727503172 		0.882 0.080 11 47333236 frameshift variant C/- del
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs727503203
rs727503203 		0.882 0.080 11 47342929 frameshift variant GG/-;GGG delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0