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: rs2069705
rs2069705
0.695 0.440 12 68161231 intron variant G/A;C snv
CUI: C0026272
Disease: Mixed Connective Tissue Disease
Mixed Connective Tissue Disease
Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019