DSP, desmoplakin, 1832

N. diseases: 191; N. variants: 152
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs761051181
rs761051181
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0002170
Disease:
Alopecia 		0.010 GeneticVariation BEFREE Sequence analysis identified a novel homozygous missense variant [c.1493C > T (p.Pro498Leu)] in the DSP gene as the underlying genetic cause of non-syndromic alopecia in the family. 26148547 2015
dbSNP: rs1057517903
rs1057517903
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1238227166
rs1238227166
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs140474226
rs140474226
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554105614
rs1554105614
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554108012
rs1554108012
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554108152
rs1554108152
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		GGAAAATC 0.700 GeneticVariation CLINVAR
dbSNP: rs1554108287
rs1554108287
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1554108410
rs1554108410
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		TTCT 0.700 GeneticVariation CLINVAR
dbSNP: rs1554108431
rs1554108431
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs397516915
rs397516915
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		T 0.700 GeneticVariation CLINVAR Pediatric cardiomyopathy: importance of genetic and metabolic evaluation. 22555271 2012
dbSNP: rs397516919
rs397516919
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs397516923
rs397516923
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs397516929
rs397516929
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		C 0.700 GeneticVariation CLINVAR Morphologic variants of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy a genetics-magnetic resonance imaging correlation study. 19358943 2009
dbSNP: rs397516932
rs397516932
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs397516933
rs397516933
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs397516940
rs397516940
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs397516943
rs397516943
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		T 0.700 GeneticVariation CLINVAR Incremental value of cardiac magnetic resonance imaging in arrhythmic risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. 23810894 2013
dbSNP: rs397516946
rs397516946
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs397516955
rs397516955
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		A 0.700 GeneticVariation CLINVAR Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. 16917092 2006
dbSNP: rs397516955
rs397516955
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		A 0.700 GeneticVariation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780 2014
dbSNP: rs397516955
rs397516955
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs727502993
rs727502993
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		AAC 0.700 GeneticVariation CLINVAR
dbSNP: rs727503000
rs727503000
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		TA 0.700 CausalMutation CLINVAR Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy. 20716751 2010
dbSNP: rs727503000
rs727503000
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		TA 0.700 CausalMutation CLINVAR Characterizing the Molecular Pathology of Arrhythmogenic Cardiomyopathy in Patient Buccal Mucosa Cells. 26850880 2016