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: rs104895128
rs104895128
0.882 0.160 16 3243593 missense variant C/A;T snv 3.7E-05
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.800 1.000 8 2007 2015