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: rs121912992
rs121912992
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843896
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
G 0.800 CausalMutation CLINVAR
dbSNP: rs121912993
rs121912993
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843292
Disease:
Skin Fragility-Woolly Hair Syndrome
G 0.800 CausalMutation CLINVAR
dbSNP: rs121912993
rs121912993
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843292
Disease:
Skin Fragility-Woolly Hair Syndrome
0.800 GeneticVariation UNIPROT
dbSNP: rs606231294
rs606231294
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C4014393
Disease:
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
0.800 GeneticVariation UNIPROT
dbSNP: rs606231294
rs606231294
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C4014393
Disease:
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
T 0.800 CausalMutation CLINVAR
dbSNP: rs606231295
rs606231295
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C4014393
Disease:
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
T 0.800 CausalMutation CLINVAR
dbSNP: rs606231295
rs606231295
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C4014393
Disease:
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
0.800 GeneticVariation UNIPROT
dbSNP: rs1057517903
rs1057517903
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518920
rs1057518920
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0265004
Disease:
Dilatation of aorta
A 0.700 CausalMutation CLINVAR
dbSNP: rs1057518920
rs1057518920
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0042510
Disease:
Ventricular Fibrillation
A 0.700 CausalMutation CLINVAR
dbSNP: rs1057518920
rs1057518920
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0855329
Disease:
Electrocardiogram change
A 0.700 CausalMutation CLINVAR
dbSNP: rs1057518920
rs1057518920
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0149630
Disease:
Bicuspid aortic valve
A 0.700 CausalMutation CLINVAR
dbSNP: rs1057518920
rs1057518920
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0085298
Disease:
Sudden Cardiac Death
A 0.700 CausalMutation CLINVAR
dbSNP: rs1060500607
rs1060500607
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843896
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
GT 0.700 CausalMutation CLINVAR
dbSNP: rs1060500609
rs1060500609
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843896
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1060500610
rs1060500610
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843896
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
T 0.700 CausalMutation CLINVAR
dbSNP: rs1060500613
rs1060500613
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843896
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
T 0.700 CausalMutation CLINVAR
dbSNP: rs1060500618
rs1060500618
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843896
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
T 0.700 CausalMutation CLINVAR
dbSNP: rs1135401735
rs1135401735
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1879286
Disease:
Hereditary bundle branch system defect
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1184921987
rs1184921987
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C4014393
Disease:
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
C 0.700 CausalMutation CLINVAR
dbSNP: rs1194358112
rs1194358112
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843896
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1194358112
rs1194358112
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1854063
Disease:
Cardiomyopathy dilated with Woolly hair and keratoderma
T 0.700 GeneticVariation CLINVAR
dbSNP: rs121912991
rs121912991
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1852127
Disease:
KERATOSIS PALMOPLANTARIS STRIATA II
T 0.700 CausalMutation CLINVAR
dbSNP: rs121912994
rs121912994
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843292
Disease:
Skin Fragility-Woolly Hair Syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs121912995
rs121912995
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843292
Disease:
Skin Fragility-Woolly Hair Syndrome
T 0.700 CausalMutation CLINVAR