Source: ALL

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: rs121917864
rs121917864
TLR2
0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05
CUI: C1968668
Disease: LEPROSY, SUSCEPTIBILITY TO, 3
LEPROSY, SUSCEPTIBILITY TO, 3 		0.700 0
dbSNP: rs5743708
rs5743708
TLR2
0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C1834752
Disease: MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (finding)
MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (finding) 		0.700 0
dbSNP: rs5743708
rs5743708
TLR2
0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C0038160
Disease: Staphylococcal Infections
Staphylococcal Infections 		0.020 1.000 2 2000 2010
dbSNP: rs121917864
rs121917864
TLR2
0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05
CUI: C0023348
Disease: Leprosy, Lepromatous
Leprosy, Lepromatous 		0.030 1.000 3 2002 2005
dbSNP: rs5743708
rs5743708
TLR2
0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.100 1.000 11 2004 2019
dbSNP: rs5743708
rs5743708
TLR2
0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C0031099
Disease: Periodontitis
Periodontitis 		0.020 0.500 2 2004 2010
dbSNP: rs121917864
rs121917864
TLR2
0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 1.000 1 2004 2004
dbSNP: rs121917864
rs121917864
TLR2
0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 1.000 1 2004 2004
dbSNP: rs5743708
rs5743708
TLR2
0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C0008149
Disease: Chlamydia Infections
Chlamydia Infections 		0.010 < 0.001 1 2004 2004
dbSNP: rs5743708
rs5743708
TLR2
0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 1.000 1 2004 2004
dbSNP: rs5743708
rs5743708
TLR2
0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 1.000 1 2004 2004
dbSNP: rs5743708
rs5743708
TLR2
0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C0035436
Disease: Rheumatic Fever
Rheumatic Fever 		0.030 1.000 3 2005 2015
dbSNP: rs5743708
rs5743708
TLR2
0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C0024198
Disease: Lyme Disease
Lyme Disease 		0.020 1.000 2 2005 2015
dbSNP: rs121917864
rs121917864
TLR2
0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05
CUI: C0023343
Disease: Leprosy
Leprosy 		0.010 1.000 1 2005 2005
dbSNP: rs5743708
rs5743708
TLR2
0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C3825715
Disease: Rheumatic fever in children
Rheumatic fever in children 		0.010 1.000 1 2005 2005
dbSNP: rs5743708
rs5743708
TLR2
0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C4023560
Disease: Generalized periodontitis
Generalized periodontitis 		0.010 1.000 1 2005 2005
dbSNP: rs5743708
rs5743708
TLR2
0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.040 1.000 4 2006 2011
dbSNP: rs5743708
rs5743708
TLR2
0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.020 0.500 2 2006 2009
dbSNP: rs5743708
rs5743708
TLR2
0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections 		0.020 1.000 2 2006 2007
dbSNP: rs5743708
rs5743708
TLR2
0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C0221014
Disease: Reactive systemic amyloidosis
Reactive systemic amyloidosis 		0.020 1.000 2 2006 2011
dbSNP: rs5743708
rs5743708
TLR2
0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		0.020 1.000 2 2006 2011
dbSNP: rs5743708
rs5743708
TLR2
0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C1290884
Disease: Inflammatory disorder
Inflammatory disorder 		0.010 1.000 1 2006 2006
dbSNP: rs5743708
rs5743708
TLR2
0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis 		0.010 1.000 1 2006 2006
dbSNP: rs5743708
rs5743708
TLR2
0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.010 1.000 1 2006 2006
dbSNP: rs5743708
rs5743708
TLR2
0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C0010823
Disease: Cytomegalovirus Infections
Cytomegalovirus Infections 		0.060 1.000 6 2007 2019