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: 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: 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: 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: 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: 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: 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: 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