Gene: DSP ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912997
rs121912997
DSP
T 0.700 GeneticVariation CLINVAR

dbSNP: rs148894066
rs148894066
DSP
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554105614
rs1554105614
DSP
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554108012
rs1554108012
DSP
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554108152
rs1554108152
DSP
GGAAAATC 0.700 GeneticVariation CLINVAR

dbSNP: rs1554108287
rs1554108287
DSP
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554108431
rs1554108431
DSP
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1561703922
rs1561703922
DSP
A 0.700 GeneticVariation CLINVAR

dbSNP: rs397516913
rs397516913
DSP
G 0.700 CausalMutation CLINVAR

dbSNP: rs397516927
rs397516927
DSP
CA 0.700 GeneticVariation CLINVAR

dbSNP: rs397516945
rs397516945
DSP
TA 0.700 GeneticVariation CLINVAR

dbSNP: rs587782927
rs587782927
DSP
C 0.700 GeneticVariation CLINVAR

dbSNP: rs727502994
rs727502994
DSP
TAG 0.700 GeneticVariation CLINVAR

dbSNP: rs727503001
rs727503001
DSP
A 0.700 GeneticVariation CLINVAR

dbSNP: rs727504498
rs727504498
DSP
T 0.700 GeneticVariation CLINVAR

dbSNP: rs727504738
rs727504738
DSP
AGCTCGAGTCCCTCG 0.700 GeneticVariation CLINVAR

dbSNP: rs727505077
rs727505077
DSP
G 0.700 GeneticVariation CLINVAR

dbSNP: rs730880093
rs730880093
DSP
C 0.700 GeneticVariation CLINVAR

dbSNP: rs794728136
rs794728136
DSP
C 0.700 GeneticVariation CLINVAR

dbSNP: rs869025398
rs869025398
DSP
G 0.700 GeneticVariation CLINVAR

dbSNP: rs869025399
rs869025399
DSP
G 0.700 GeneticVariation CLINVAR

dbSNP: rs879255521
rs879255521
DSP
T 0.700 GeneticVariation CLINVAR

dbSNP: rs727504443
rs727504443
DSP
A 0.700 GeneticVariation CLINVAR Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. 10594734

1999
dbSNP: rs397516956
rs397516956
DSP
CA 0.700 GeneticVariation CLINVAR Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. 11063735

2000
dbSNP: rs397516956
rs397516956
DSP
CA 0.700 GeneticVariation CLINVAR Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome. 16467215

2006