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: rs121912473
rs121912473
JAK2 ; INSL6
0.925 0.080 9 5070026 missense variant AA/TT mnv
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.010 1.000 1 2012 2012
dbSNP: rs4495487
rs4495487
JAK2 ; INSL6
0.925 0.080 9 5072798 intron variant T/C snv 0.23
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.010 1.000 1 2012 2012
dbSNP: rs10974947
rs10974947
JAK2 ; INSL6
0.882 0.080 9 5072846 intron variant G/A snv 0.23
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.010 1.000 1 2008 2008
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.900 0.960 273 2005 2019
dbSNP: rs11999802
rs11999802 		1.000 0.080 9 5189773 upstream gene variant T/G snv 0.33
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.010 1.000 1 2011 2011
dbSNP: rs754190776
rs754190776
HBG2
0.925 0.080 11 5253350 missense variant G/A snv 8.0E-06
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.010 1.000 1 1989 1989
dbSNP: rs775387828
rs775387828
NFE2
0.851 0.200 12 54293083 missense variant G/A snv 2.2E-05 7.0E-06
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.010 1.000 1 2013 2013
dbSNP: rs777342222
rs777342222
EGFR
1.000 0.080 7 55155925 missense variant T/C snv 4.0E-06
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.010 1.000 1 2017 2017
dbSNP: rs4073
rs4073
CXCL8
0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.010 1.000 1 2019 2019
dbSNP: rs17849241
rs17849241
SOCS3 ; LOC101928674
0.925 0.080 17 78358688 missense variant G/C;T snv 4.1E-06; 2.1E-04
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.010 1.000 1 2009 2009
dbSNP: rs201478192
rs201478192
KIDINS220
0.790 0.200 2 8731667 missense variant C/A snv 2.4E-04 2.6E-04
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.040 1.000 4 2013 2015
dbSNP: rs267606870
rs267606870
IDH2
0.763 0.280 15 90088703 missense variant G/A;C snv
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.010 1.000 1 2010 2010