rs28940579, MEFV

N. diseases: 4
Source: INFERRED ×
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
0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 0.900 1.000 20 1997 2019
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 0.700 1.000 12 1967 2017
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 0.700 1.000 12 1967 2017
Familial Mediterranean Fever, Autosomal Dominant
CUI: C1851347
Disease: Familial Mediterranean Fever, Autosomal Dominant
0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 0.700 0