{{Rsnum
|rsid = 34738426
|Gene = DSP
|Orientation=plus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Chromosome=6
|position=7581514
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=DSP
}}{{Venter SNP
|rsid=34738426
|allele=T
|frequency=
|uid=1103652776080
|type=heterozygous_SNP
|hugo=DSP
|ensembl gene=ENSG00000096696
|ensembl transcript=ENST00000379802
|sift=TOLERATED
|disease=Defects in DSP are the cause of lethal acantholytic epidermolysis bullosa (MIM:609638). Lethal acantholytic epidermolysis bullosa is characterized by severe fragility of skin and mucous membranes. The phenotype is lethal in the neonatal period because of immense transcutaneous fluid loss. Typical features include universal alopecia, neonatal teeth, and nail loss. Histopathology of the skin shows suprabasal clefting and acantholysis throughout the spinous layer, mimicking pemphigus.
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}