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: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C1318533
Disease: Secondary polycythemia
Secondary polycythemia 		0.060 1.000 6 2005 2011
dbSNP: rs1035193069
rs1035193069
SERPINA1
0.925 0.080 14 94382946 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C1318533
Disease: Secondary polycythemia
Secondary polycythemia 		0.010 1.000 1 1992 1992
dbSNP: rs1253570532
rs1253570532
RUNX1
0.925 0.080 21 34792289 missense variant G/A snv 7.0E-06
CUI: C1318533
Disease: Secondary polycythemia
Secondary polycythemia 		0.010 1.000 1 2013 2013
dbSNP: rs759442241
rs759442241
ARHGEF7
0.925 0.080 13 111274731 missense variant G/A snv 5.5E-06
CUI: C1318533
Disease: Secondary polycythemia
Secondary polycythemia 		0.010 1.000 1 1992 1992
dbSNP: rs772889171
rs772889171
RUNX1
0.925 0.080 21 34834487 missense variant G/A snv 4.0E-06
CUI: C1318533
Disease: Secondary polycythemia
Secondary polycythemia 		0.010 1.000 1 2013 2013
dbSNP: rs775387828
rs775387828
NFE2
0.851 0.200 12 54293083 missense variant G/A snv 2.2E-05 7.0E-06
CUI: C1318533
Disease: Secondary polycythemia
Secondary polycythemia 		0.010 1.000 1 2013 2013
dbSNP: rs779735456
rs779735456
ARHGEF7
0.925 0.080 13 111275610 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1318533
Disease: Secondary polycythemia
Secondary polycythemia 		0.010 1.000 1 1992 1992
dbSNP: rs780178275
rs780178275
VHL
0.851 0.200 3 10146586 missense variant C/T snv 8.0E-06
CUI: C1318533
Disease: Secondary polycythemia
Secondary polycythemia 		0.010 1.000 1 2013 2013