rs28940578, MEFV

N. diseases: 3
Source: CURATED ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Familial Mediterranean Fever
CUI: C0031069
Disease: Familial Mediterranean Fever
54 0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05 0.900 1.000 25 1997 2017
Familial Mediterranean Fever, Autosomal Dominant
CUI: C1851347
Disease: Familial Mediterranean Fever, Autosomal Dominant
9 0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05 0.700 1.000 1 2005 2005
Nephrotic Syndrome
CUI: C0027726
Disease: Nephrotic Syndrome
21 0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05 0.700 1.000 1 2005 2005