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: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis 		0.100 0.920 25 2006 2018
dbSNP: rs750046020
rs750046020
MPL
0.827 0.080 1 43338646 missense variant C/G;T snv 8.0E-06; 8.0E-05
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis 		0.030 1.000 3 2009 2018
dbSNP: rs17292650
rs17292650
MPL
0.882 0.120 1 43338136 missense variant G/T snv 3.5E-03 1.4E-02
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis 		0.020 1.000 2 2004 2013
dbSNP: rs1057520016
rs1057520016
JAK2 ; INSL6
0.851 0.080 9 5089726 missense variant C/A;T snv
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis 		0.010 1.000 1 2019 2019
dbSNP: rs121913615
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis 		0.010 1.000 1 2016 2016
dbSNP: rs1317118140
rs1317118140
NLRP12
1.000 0.040 19 53804069 missense variant A/G snv
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis 		0.010 1.000 1 2018 2018
dbSNP: rs149698066
rs149698066
BLVRB
1.000 0.040 19 40458157 stop gained G/A;T snv 3.1E-03
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis 		0.010 1.000 1 2016 2016
dbSNP: rs730882079
rs730882079
LDLR
1.000 0.040 19 11105220 missense variant C/T snv 8.0E-06
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis 		0.010 1.000 1 2018 2018
dbSNP: rs754858730
rs754858730
CHD7
1.000 0.040 8 60853189 missense variant C/T snv 4.0E-06
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis 		0.010 1.000 1 2018 2018
dbSNP: rs779957223
rs779957223
NLRP12
1.000 0.040 19 53804069 frameshift variant -/AG ins 1.2E-05 1.4E-05
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis 		0.010 1.000 1 2018 2018
dbSNP: rs782627671
rs782627671
RPS19 ; MIR6797
1.000 0.040 19 41869159 missense variant C/T snv 4.0E-06
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis 		0.010 1.000 1 2018 2018