Disease: Congenital ichthyosis ×
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: rs764593071
rs764593071 		1.000 0.080 12 56934150 missense variant C/G;T snv 5.6E-05
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0