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: rs3764650
rs3764650
0.790 0.200 19 1046521 intron variant T/G snv 0.14
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 2014 2014