rs104895105, MEFV

N. diseases: 7
Source: ALL
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, Autosomal Dominant
CUI: C1851347
Disease: Familial Mediterranean Fever, Autosomal Dominant
9 0.851 0.120 16 3247171 missense variant G/A snv 0.700 0
AA amyloidosis
CUI: C3536715
Disease: AA amyloidosis
10 0.851 0.120 16 3247171 missense variant G/A snv 0.010 1.000 1 2004 2004
COLCHICINE RESISTANCE
CUI: C1861502
Disease: COLCHICINE RESISTANCE
3 0.851 0.120 16 3247171 missense variant G/A snv 0.010 1.000 1 2004 2004
Familial Mediterranean Fever
CUI: C0031069
Disease: Familial Mediterranean Fever
82 0.851 0.120 16 3247171 missense variant G/A snv 0.010 1.000 1 2004 2004
Hereditary Autoinflammatory Diseases
CUI: C0751422
Disease: Hereditary Autoinflammatory Diseases
1 0.851 0.120 16 3247171 missense variant G/A snv 0.010 1.000 1 2004 2004
Inflammatory disorder
CUI: C1290884
Disease: Inflammatory disorder
8 0.851 0.120 16 3247171 missense variant G/A snv 0.010 1.000 1 2004 2004
Reactive systemic amyloidosis
CUI: C0221014
Disease: Reactive systemic amyloidosis
11 0.851 0.120 16 3247171 missense variant G/A snv 0.010 1.000 1 2004 2004