Source: BEFREE

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: C0242584
Disease: Autoimmune thrombocytopenia
Autoimmune thrombocytopenia 		0.020 1.000 2 2017 2019
dbSNP: rs153109
rs153109
IL27
0.623 0.600 16 28507775 intron variant T/C snv 0.43
CUI: C0242584
Disease: Autoimmune thrombocytopenia
Autoimmune thrombocytopenia 		0.010 1.000 1 2013 2013
dbSNP: rs1884444
rs1884444
IL23R ; C1orf141
0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51
CUI: C0242584
Disease: Autoimmune thrombocytopenia
Autoimmune thrombocytopenia 		0.010 1.000 1 2016 2016
dbSNP: rs2297630
rs2297630
CXCL12
0.827 0.160 10 44376100 intron variant G/A;T snv 0.21
CUI: C0242584
Disease: Autoimmune thrombocytopenia
Autoimmune thrombocytopenia 		0.010 1.000 1 2016 2016
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70
CUI: C0242584
Disease: Autoimmune thrombocytopenia
Autoimmune thrombocytopenia 		0.010 1.000 1 2014 2014
dbSNP: rs4077515
rs4077515
CARD9
0.763 0.360 9 136372044 missense variant C/A;T snv 4.0E-06; 0.41
CUI: C0242584
Disease: Autoimmune thrombocytopenia
Autoimmune thrombocytopenia 		0.010 1.000 1 2019 2019
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0242584
Disease: Autoimmune thrombocytopenia
Autoimmune thrombocytopenia 		0.010 1.000 1 2019 2019