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: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins 		0.070 1.000 7 2002 2015
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins 		0.040 1.000 4 2007 2017
dbSNP: rs1188383936
rs1188383936
F2
0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins 		0.020 1.000 2 2007 2012
dbSNP: rs121918474
rs121918474
PROS1
0.763 0.320 3 93905799 missense variant T/C snv 2.8E-05 1.4E-05
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins 		0.010 1.000 1 2019 2019
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
0.494 0.840 7 22727026 intron variant C/G snv 0.71
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins 		0.010 1.000 1 2015 2015
dbSNP: rs1800796
rs1800796
IL6 ; STEAP1B ; IL6-AS1
0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins 		0.010 1.000 1 2015 2015
dbSNP: rs201058276
rs201058276
F7
0.776 0.240 13 113118731 missense variant G/A;C snv 4.8E-05; 4.0E-06
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins 		0.010 1.000 1 2012 2012
dbSNP: rs3809021
rs3809021
PDGFD
0.882 0.080 11 104164894 upstream gene variant T/G snv 0.61
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins 		0.010 1.000 1 2012 2012
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins 		0.010 1.000 1 2013 2013
dbSNP: rs763351020
rs763351020
SERPINE1
0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins 		0.010 1.000 1 2007 2007
dbSNP: rs899127658
rs899127658
F2
0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins 		0.010 1.000 1 2007 2007