Disease: Keratoderma with scleroatrophy of the extremities ×
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: rs1114167276
rs1114167276 		1.000 0.080 4 94253673 splice donor variant T/C snv
CUI: C0406767
Disease: Keratoderma with scleroatrophy of the extremities
Keratoderma with scleroatrophy of the extremities 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1560542180
rs1560542180 		1.000 0.080 4 94253656 splice donor variant GAAGGCATAAGCACTGGT/- del
CUI: C0406767
Disease: Keratoderma with scleroatrophy of the extremities
Keratoderma with scleroatrophy of the extremities 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1560542214
rs1560542214 		1.000 0.080 4 94253672 splice donor variant -/T delins
CUI: C0406767
Disease: Keratoderma with scleroatrophy of the extremities
Keratoderma with scleroatrophy of the extremities 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0