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: 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: rs769139957
rs769139957
ALPK3
15 84840691 frameshift variant C/-;CC delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 1.000 1 2017 2017
dbSNP: rs1057518905
rs1057518905
DPM3
1 155140104 missense variant A/T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1057519457
rs1057519457
SCN1B
19 35033599 missense variant A/T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs141735183
rs141735183
MYH7
14 23420222 stop gained C/A snv 8.2E-06 7.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs148515772
rs148515772
EMD
X 154380902 missense variant G/A snv 8.2E-05 8.5E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1554398705
rs1554398705
FLNC
7 128842906 frameshift variant -/C delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1555142963
rs1555142963
PKP2
12 32822477 frameshift variant TCCTGCTTCGACTGCCAAAACAT/- delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1559051231
rs1559051231
TTN ; TTN-AS1
2 178535728 stop gained C/T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1559192617
rs1559192617
TTN ; TTN-AS1
2 178550977 frameshift variant CTTGTCATAAT/- delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1559262463
rs1559262463
TTN ; TTN-AS1
2 178558000 frameshift variant A/- del
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1559448864
rs1559448864
TTN ; TTN-AS1
2 178575386 frameshift variant -/A delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1559469421
rs1559469421
TTN ; TTN-AS1
2 178577230 frameshift variant -/A delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1559556267
rs1559556267
TTN ; TTN-AS1
2 178588040 frameshift variant CTGCA/- del
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1559712733
rs1559712733
TTN ; TTN-AS1
2 178604300 splice acceptor variant CCAGATCTAGAAATTAGA/AG delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1559746821
rs1559746821
TTN ; TTN-AS1
2 178608282 stop gained A/T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1559873786
rs1559873786
TTN ; TTN-AS1
2 178620846 frameshift variant GATGTAT/- delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1561323791
rs1561323791
TTN ; TTN-AS1 ; LOC101927055
2 178779110 stop gained C/T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1561445221
rs1561445221
TTN
2 178792176 frameshift variant T/- delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		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