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: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.010 1.000 1 2014 2014
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: 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: rs562533120
rs562533120
HBS1L
0.882 0.080 6 134966397 missense variant A/C snv 8.0E-06
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.010 1.000 1 2015 2015
dbSNP: rs7046736
rs7046736
JAK2 ; INSL6
0.925 0.080 9 5015732 intron variant C/A snv 0.39
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.010 1.000 1 2008 2008
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: rs766642690
rs766642690
MPL
1.000 0.080 1 43352635 missense variant T/C;G snv 4.0E-06
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.010 1.000 1 2008 2008
dbSNP: rs772889171
rs772889171
RUNX1
0.925 0.080 21 34834487 missense variant G/A snv 4.0E-06
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.010 1.000 1 2013 2013
dbSNP: rs773475680
rs773475680
ABL1
1.000 0.080 9 130884139 missense variant C/T snv 4.0E-06
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.010 1.000 1 2009 2009
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: rs780178275
rs780178275
VHL
0.851 0.200 3 10146586 missense variant C/T snv 8.0E-06
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.010 1.000 1 2013 2013