Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs193922716
rs193922716
0.925 0.120 17 42333719 missense variant G/A snv
CUI: C3887645
Disease: Job Syndrome
Job Syndrome
0.700 0