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: rs3130573
rs3130573
1.000 0.040 6 31138491 non coding transcript exon variant A/C;G snv 8.1E-06; 0.33
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
Skin and Connective Tissue Diseases 0.800 1.000 1 2011 2011