Disease: Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis ×
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: rs59075499
rs59075499 		1.000 0.080 17 40819625 missense variant CG/TC mnv
CUI: C1843463
Disease: Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 2 1997 1998
dbSNP: rs62651994
rs62651994 		1.000 0.080 17 40819553 missense variant A/G snv
CUI: C1843463
Disease: Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 2 1997 1998
dbSNP: rs58852768
rs58852768 		0.882 0.080 17 40822120 missense variant G/A;C;T snv
CUI: C1843463
Disease: Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0