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: rs2075800
rs2075800
0.776 0.440 6 31810169 missense variant C/T snv 0.32 0.25
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010