Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912993
rs121912993
DSP
G 0.800 CausalMutation CLINVAR

dbSNP: rs121912993
rs121912993
DSP
0.800 GeneticVariation UNIPROT

dbSNP: rs28931610
rs28931610
DSP
0.700 GeneticVariation UNIPROT Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. 11841538

2002
dbSNP: rs121912994
rs121912994
DSP
A 0.700 CausalMutation CLINVAR

dbSNP: rs121912995
rs121912995
DSP
T 0.700 CausalMutation CLINVAR

dbSNP: rs387906618
rs387906618
DSP
A 0.700 CausalMutation CLINVAR

dbSNP: rs397516955
rs397516955
DSP
A 0.700 CausalMutation CLINVAR

dbSNP: rs794728137
rs794728137
DSP
AG 0.700 GeneticVariation CLINVAR