DSP, desmoplakin, 1832

N. diseases: 191; N. variants: 152
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912996
rs121912996
1.000 0.080 6 7583062 stop gained C/A;T snv
Epidermolysis bullosa, lethal acantholytic
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs397516955
rs397516955
0.790 0.120 6 7562753 stop gained G/A snv
Epidermolysis bullosa, lethal acantholytic
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs730880023
rs730880023
1.000 0.080 6 7577039 splice donor variant AGGTA/- delins
Epidermolysis bullosa, lethal acantholytic
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs730880024
rs730880024
1.000 0.080 6 7584505 frameshift variant T/- delins
Epidermolysis bullosa, lethal acantholytic
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs794728137
rs794728137
0.807 0.120 6 7565507 frameshift variant -/G delins
Epidermolysis bullosa, lethal acantholytic
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0