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: rs12329760
rs12329760
0.882 0.200 21 41480570 missense variant C/T snv 0.24 0.25
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 2011 2011