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: rs121908151
rs121908151
1.000 0.080 1 247425154 missense variant G/A;C snv
CUI: C0268390
Disease: Muckle-Wells Syndrome
Muckle-Wells Syndrome
0.800 1.000 5 2001 2014