Source: CLINVAR

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: rs397516956
rs397516956
DSP
6 7562762 frameshift variant -/A delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 2 2000 2006
dbSNP: rs397516973
rs397516973
DSP
6 7565448 stop gained C/A;T snv 1.2E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 1 2006 2006
dbSNP: rs727505115
rs727505115
DSP
6 7572069 splice donor variant G/A;C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 1 2010 2010
dbSNP: rs730880092
rs730880092
DSP
6 7583572 frameshift variant A/- del 5.2E-05 2.8E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 1.000 1 2010 2010
dbSNP: rs148894066
rs148894066
DSP
6 7579697 stop gained C/A;T snv 1.4E-04
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 0
dbSNP: rs1561686893
rs1561686893
DSP
6 7567372 stop gained C/T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 0
dbSNP: rs1561690319
rs1561690319
DSP
6 7571506 stop gained C/T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 0
dbSNP: rs1561698714
rs1561698714
DSP
6 7580519 frameshift variant -/A delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 0
dbSNP: rs1561701721
rs1561701721
DSP
6 7583201 frameshift variant -/C delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 0
dbSNP: rs1561702549
rs1561702549
DSP
6 7583725 frameshift variant G/CT delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 0
dbSNP: rs1561703922
rs1561703922
DSP
6 7584830 frameshift variant ACAG/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 0
dbSNP: rs193922668
rs193922668
DSP
6 7568551 inframe deletion ATT/- delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 0
dbSNP: rs193922671
rs193922671
DSP
6 7585226 missense variant C/G snv 5.2E-05 4.9E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 0
dbSNP: rs397516913
rs397516913
DSP
6 7567781 frameshift variant T/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 0
dbSNP: rs397516927
rs397516927
DSP
6 7577007 frameshift variant -/A delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 0
dbSNP: rs397516945
rs397516945
DSP
6 7559337 frameshift variant -/A ins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 0
dbSNP: rs727502994
rs727502994
DSP
6 7581565 splice donor variant -/AG delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 0
dbSNP: rs727504498
rs727504498
DSP
6 7570477 stop gained C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 0
dbSNP: rs727504738
rs727504738
DSP
6 7559294 frameshift variant CC/AGCTCGAGTCCCTCG delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 0
dbSNP: rs727505077
rs727505077
DSP
6 7571432 frameshift variant A/- del
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 0
dbSNP: rs730880093
rs730880093
DSP
6 7583655 frameshift variant A/- del
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 0
dbSNP: rs869025398
rs869025398
DSP
6 7567451 splice donor variant T/G snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 0
dbSNP: rs869025399
rs869025399
DSP
6 7582986 frameshift variant A/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 0
dbSNP: rs879255521
rs879255521
DSP
6 7580193 stop gained C/T snv 4.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 0
dbSNP: rs397516955
rs397516955
DSP
0.790 0.120 6 7562753 stop gained G/A snv
Arrhythmogenic Right Ventricular Dysplasia
0.700 1.000 3 2006 2015