Source: CURATED

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: rs1024095026
rs1024095026
ABCC9
12 21887879 stop gained G/A snv 1.2E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 1.000 1 2012 2012
dbSNP: rs1565477732
rs1565477732
ABCC9
12 21912871 splice donor variant C/T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs193922683
rs193922683
ABCC9
12 21852457 stop gained G/A snv 1.6E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1566967399
rs1566967399
ACTC1 ; LOC101928174
15 34792158 missense variant C/T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs193922680
rs193922680
ACTC1 ; LOC101928174
0.790 0.080 15 34793398 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs769139957
rs769139957
ALPK3
15 84840691 frameshift variant C/-;CC delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 1.000 1 2017 2017
dbSNP: rs1555661648
rs1555661648
AQP4 ; AQP4-AS1
0.882 0.240 18 26862297 missense variant C/G snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1057517686
rs1057517686
ATAD3A
0.827 0.120 1 1529299 missense variant C/T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 1.000 1 2016 2016
dbSNP: rs202024436
rs202024436
CRYAB
11 111908969 splice acceptor variant T/C snv 3.6E-05 2.1E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs397516686
rs397516686
CRYAB ; HSPB2 ; HSPB2-C11orf52
11 111911722 start lost C/T snv 6.7E-05 2.8E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1565050709
rs1565050709
CSRP3
11 19186268 frameshift variant G/- delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs193922667
rs193922667
CSRP3
11 19186265 missense variant C/T snv 1.2E-05 4.2E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs902082118
rs902082118
CSRP3
11 19186266 stop gained G/A snv 1.2E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs201217593
rs201217593
DMD
0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1057518905
rs1057518905
DPM3
1 155140104 missense variant A/T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs193922708
rs193922708
DSC2
18 31086683 missense variant G/A;T snv 4.8E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs397517408
rs397517408
DSC2
1.000 0.080 18 31093617 frameshift variant G/- del
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs397516706
rs397516706
DSG2 ; DSG2-AS1
0.925 0.080 18 31546441 frameshift variant AGAG/-;AG delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
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: 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: rs1561698362
rs1561698362
DSP
0.925 0.120 6 7580225 frameshift variant ATGAA/- delins
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