DSG1, desmoglein 1, 1828

N. diseases: 81; N. variants: 13
Disease: Palmoplantar Keratosis ×
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: rs1057518788
rs1057518788 		0.925 0.120 18 31331787 stop gained G/T snv
CUI: C0022596
Disease: Palmoplantar Keratosis
Palmoplantar Keratosis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1182196436
rs1182196436 		0.925 0.120 18 31326922 stop gained C/A;T snv
CUI: C0022596
Disease: Palmoplantar Keratosis
Palmoplantar Keratosis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs761241711
rs761241711 		0.925 0.080 18 31336524 stop gained T/C;G snv 1.1E-04
CUI: C0022596
Disease: Palmoplantar Keratosis
Palmoplantar Keratosis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0