DSP, desmoplakin, 1832

N. diseases: 191; N. variants: 152
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: rs397516956
rs397516956 		6 7562762 frameshift variant -/A delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 2 2000 2006
dbSNP: rs10484326
rs10484326 		6 7558085 intron variant T/C snv 0.20 0.21
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1358904
rs1358904 		6 7564228 intron variant C/T snv 0.31
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.700 1.000 1 2013 2013
dbSNP: rs2744375
rs2744375 		6 7554606 intron variant A/T snv 0.16
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE 		0.700 1.000 1 2016 2016
dbSNP: rs3778337
rs3778337 		6 7565652 non coding transcript exon variant G/A snv 0.26
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.700 1.000 1 2013 2013
dbSNP: rs397516973
rs397516973 		6 7565448 stop gained C/A;T snv 1.2E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 1 2006 2006
dbSNP: rs727505115
rs727505115 		6 7572069 splice donor variant G/A;C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 1 2010 2010
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: rs148894066
rs148894066 		6 7579697 stop gained C/A;T snv 1.4E-04
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
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: 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: rs1561703922
rs1561703922 		6 7584830 frameshift variant ACAG/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		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: rs397516913
rs397516913 		6 7567781 frameshift variant T/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs397516927
rs397516927 		6 7577007 frameshift variant -/A delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs397516945
rs397516945 		6 7559337 frameshift variant -/A ins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs727502994
rs727502994 		6 7581565 splice donor variant -/AG delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs727504498
rs727504498 		6 7570477 stop gained C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs727504738
rs727504738 		6 7559294 frameshift variant CC/AGCTCGAGTCCCTCG delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs727505077
rs727505077 		6 7571432 frameshift variant A/- del
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs730880093
rs730880093 		6 7583655 frameshift variant A/- del
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0