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: rs5743277
rs5743277
1.000 0.040 16 50712018 missense variant C/G;T snv 1.2E-05; 3.2E-03
CUI: C0740451
Disease: Granulomatous disorder
Granulomatous disorder
0.010 1.000 1 2015 2015