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: rs121908117
rs121908117
0.708 0.440 3 48466707 missense variant G/A snv
CUI: C4551515
Disease: Chilblain lupus erythematosus
Chilblain lupus erythematosus
Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs78846775
rs78846775
0.827 0.240 3 48467253 missense variant G/A;T snv
CUI: C4551515
Disease: Chilblain lupus erythematosus
Chilblain lupus erythematosus
Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014