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: rs121908150
rs121908150
0.851 0.080 1 247424227 stop gained C/T snv
CUI: C0268390
Disease: Muckle-Wells Syndrome
Muckle-Wells Syndrome
0.820 1.000 5 2001 2014