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: 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: 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: rs6503691
rs6503691
STAT5B
0.827 0.200 17 42242072 intron variant C/T snv 0.26
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		0.010 1.000 1 2014 2014
dbSNP: rs582757
rs582757
TNFAIP3
0.776 0.320 6 137876687 intron variant C/T snv 0.70
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		0.010 1.000 1 2009 2009
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: rs5742909
rs5742909
CTLA4
0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		0.010 1.000 1 2016 2016
dbSNP: rs4796793
rs4796793
STAT3
0.716 0.320 17 42390192 upstream gene variant G/C snv 0.67
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		0.010 1.000 1 2014 2014
dbSNP: rs447713
rs447713
IL1RN
0.851 0.160 2 113130095 non coding transcript exon variant A/G snv 0.21
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		0.010 1.000 1 2016 2016
dbSNP: rs3789609
rs3789609
PTPN22 ; AP4B1-AS1
1.000 0.080 1 113855177 intron variant C/T snv 0.21
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		0.010 1.000 1 2014 2014
dbSNP: rs35514500
rs35514500 		1.000 0.080 14 59387188 intergenic variant -/T delins
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		0.010 1.000 1 2015 2015
dbSNP: rs3087243
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		0.010 1.000 1 2016 2016
dbSNP: rs3025058
rs3025058
MMP3
0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		0.010 < 0.001 1 2018 2018
dbSNP: rs2853550
rs2853550
IL1B
0.882 0.120 2 112829544 downstream gene variant A/G snv 0.83
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
dbSNP: rs2276109
rs2276109
MMP12
0.701 0.440 11 102875061 upstream gene variant T/C snv 9.2E-02
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		0.010 < 0.001 1 2018 2018
dbSNP: rs2275913
rs2275913
IL17A
0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		0.010 1.000 1 2018 2018
dbSNP: rs2234663
rs2234663
IL1RN
0.716 0.480 2 113130529 intron variant ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC/-;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC delins
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		0.010 1.000 1 2016 2016
dbSNP: rs202166511
rs202166511
IGHV4-61
1.000 0.080 14 106639264 missense variant A/C;G;T snv 1.5E-05; 8.5E-03; 1.0E-05
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		0.700 1.000 1 2017 2017
dbSNP: rs202117805
rs202117805
IGHV4-61
1.000 0.080 14 106639291 missense variant G/A;C snv 2.0E-05; 0.14
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		0.700 1.000 1 2017 2017
dbSNP: rs201691548
rs201691548
IGHV4-61
1.000 0.080 14 106639255 missense variant A/C;G;T snv 5.1E-06; 3.6E-05; 1.0E-02
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: 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: rs1982073
rs1982073
TGFB1
0.649 0.640 19 41353016 missense variant G/A;C snv
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		0.010 1.000 1 2016 2016
dbSNP: rs1800896
rs1800896
IL10 ; IL19
0.507 0.800 1 206773552 intron variant T/C snv 0.41
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		0.010 1.000 1 2016 2016
dbSNP: rs1800797
rs1800797
IL6 ; STEAP1B ; IL6-AS1
0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		0.010 1.000 1 2016 2016