Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894655
rs104894655
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.700 GeneticVariation CLINVAR Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. 10655062

2000

dbSNP: rs1064793814
rs1064793814
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.700 CausalMutation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012

dbSNP: rs1114167453
rs1114167453
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
C 0.700 CausalMutation CLINVAR

dbSNP: rs111569862
rs111569862
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.700 GeneticVariation CLINVAR Long-Term Arrhythmic and Nonarrhythmic Outcomes of Lamin A/C Mutation Carriers. 27884249

2016

dbSNP: rs111569862
rs111569862
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.700 GeneticVariation CLINVAR A novel mutation in a large French-Canadian family with LGMD1B. 18714801

2008

dbSNP: rs112188483
rs112188483
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.700 GeneticVariation CLINVAR

dbSNP: rs112240298
rs112240298
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.700 GeneticVariation CLINVAR

dbSNP: rs114638163
rs114638163
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.700 CausalMutation CLINVAR MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. 27799064

2016

dbSNP: rs121912997
rs121912997
DSP
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121913642
rs121913642
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
G 0.700 CausalMutation CLINVAR Elevated rates of force development and MgATP binding in F764L and S532P myosin mutations causing dilated cardiomyopathy. 23313350

2013

dbSNP: rs121913642
rs121913642
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
G 0.700 CausalMutation CLINVAR Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy. 22949430

2012

dbSNP: rs121913642
rs121913642
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
G 0.700 CausalMutation CLINVAR Hypertrophic and dilated cardiomyopathy mutations differentially affect the molecular force generation of mouse alpha-cardiac myosin in the laser trap assay. 17351073

2007

dbSNP: rs121913642
rs121913642
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
G 0.700 CausalMutation CLINVAR Cardiac myosin missense mutations cause dilated cardiomyopathy in mouse models and depress molecular motor function. 16983074

2006

dbSNP: rs121913642
rs121913642
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
G 0.700 CausalMutation CLINVAR Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. 11106718

2000

dbSNP: rs121913642
rs121913642
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
G 0.700 CausalMutation CLINVAR Human growth hormone stimulates somatomedin C/insulin-like growth factor I production by the human lymphoid cell line, IM-9. 2753225

1989

dbSNP: rs121913647
rs121913647
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.700 GeneticVariation CLINVAR

dbSNP: rs137853197
rs137853197
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
G 0.700 GeneticVariation CLINVAR Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. 19881492

2009

dbSNP: rs140614802
rs140614802
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.700 CausalMutation CLINVAR

dbSNP: rs140743001
rs140743001
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.700 GeneticVariation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780

2014

dbSNP: rs140743001
rs140743001
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012

dbSNP: rs1408345511
rs1408345511
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.700 GeneticVariation CLINVAR

dbSNP: rs143139258
rs143139258
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
G 0.700 GeneticVariation CLINVAR

dbSNP: rs148894066
rs148894066
DSP
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.700 GeneticVariation CLINVAR

dbSNP: rs150974575
rs150974575
DES
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.700 GeneticVariation CLINVAR Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy. 23815709

2013

dbSNP: rs150974575
rs150974575
DES
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.700 GeneticVariation CLINVAR High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. 22153487

2012