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: rs770850320
rs770850320
0.882 0.120 17 17816960 missense variant G/A snv 2.0E-05 2.8E-05
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015