Disease: Factor V Leiden mutation
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
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
rs899127658
F2
0.547 0.720 11 46739084 missense variant G/A;C snv 82
rs751377893
F5
0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 65
rs121918474
PROS1
0.763 0.320 3 93905799 missense variant T/C snv 2.8E-05 1.4E-05 11
rs368927897
JAK2 ; INSL6
0.790 0.240 9 5072541 missense variant G/A;T snv 2.8E-05; 6.4E-05 9