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: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		0.010 1.000 1 2007 2007
dbSNP: rs200931578
rs200931578
IGHV4-61
1.000 0.080 14 106639263 missense variant T/A;C snv 6.9E-03 0.23
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		0.700 1.000 1 2017 2017
dbSNP: rs201076896
rs201076896
IGHV4-61
1.000 0.080 14 106639254 missense variant T/G snv 1.1E-02 0.27
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		0.700 1.000 1 2017 2017
dbSNP: rs5743708
rs5743708
TLR2
0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		0.030 0.667 3 2007 2015
dbSNP: rs72550870
rs72550870
MASP2
0.776 0.360 1 11046609 missense variant T/C snv 2.1E-02 2.2E-02
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		0.010 1.000 1 2008 2008
dbSNP: rs763780
rs763780
IL17F
0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		0.010 < 0.001 1 2018 2018
dbSNP: rs1800629
rs1800629
TNF
0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		0.010 1.000 1 2016 2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		0.020 0.500 2 2011 2014