Disease: Myeloproliferative disease
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs1188383936
F2
0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 102
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 25
rs201478192
KIDINS220
0.790 0.200 2 8731667 missense variant C/A snv 2.4E-04 2.6E-04 12
rs121913616
MPL
0.790 0.120 1 43349337 missense variant TG/AA mnv 8
rs12339666
INSL6 ; JAK2
0.925 0.080 9 5063296 intron variant G/T snv 0.34 3
rs17849241
SOCS3 ; LOC101928674
0.925 0.080 17 78358688 missense variant G/C;T snv 4.1E-06; 2.1E-04 3
rs2201862 0.925 0.080 3 168930251 downstream gene variant T/C snv 0.63 3
rs4495487
INSL6 ; JAK2
0.925 0.080 9 5072798 intron variant T/C snv 0.23 3