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: rs1056836
rs1056836
0.581 0.680 2 38071060 missense variant G/C snv 0.51
CUI: C0268398
Disease: Familial lichen amyloidosis
Familial lichen amyloidosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012