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: rs587778779
rs587778779
0.807 0.240 2 218814379 splice acceptor variant G/A;T snv
CUI: C0221253
Disease: Xanthoma tendinosum
Xanthoma tendinosum
Nutritional and Metabolic Diseases 0.700 0