DSP, desmoplakin, 1832

N. diseases: 191; N. variants: 152
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: rs121912998
rs121912998 		1.000 0.040 6 7542003 missense variant G/A snv 1.6E-03 1.1E-03
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs730880092
rs730880092 		6 7583572 frameshift variant A/- del 5.2E-05 2.8E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 1.000 1 2010 2010
dbSNP: rs1561686893
rs1561686893 		6 7567372 stop gained C/T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs1561690319
rs1561690319 		6 7571506 stop gained C/T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs1561698362
rs1561698362 		0.925 0.120 6 7580225 frameshift variant ATGAA/- delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs1561698714
rs1561698714 		6 7580519 frameshift variant -/A delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs1561701721
rs1561701721 		6 7583201 frameshift variant -/C delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs1561702549
rs1561702549 		6 7583725 frameshift variant G/CT delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs193922668
rs193922668 		6 7568551 inframe deletion ATT/- delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs193922671
rs193922671 		6 7585226 missense variant C/G snv 5.2E-05 4.9E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs28763965
rs28763965 		0.925 0.120 6 7580562 stop gained C/A;G;T snv 8.0E-06; 1.7E-03; 4.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs397516915
rs397516915 		0.925 0.080 6 7568443 stop gained C/T snv 4.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs397516955
rs397516955 		0.790 0.120 6 7562753 stop gained G/A snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0