Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs12566888
rs12566888
7 0.807 0.280 1 156899255 intron variant G/T snv 0.26 0.010 1.000 1 2015 2015
dbSNP: rs12610286
rs12610286
2 0.925 0.120 19 55030031 intron variant A/G snv 0.32 0.010 1.000 1 2012 2012
dbSNP: rs1654416
rs1654416
2 0.925 0.120 19 55018667 missense variant C/G;T snv 4.0E-06; 0.81 0.010 1.000 1 2018 2018
dbSNP: rs1671152
rs1671152
5 0.882 0.160 19 55014977 missense variant T/G snv 0.85 0.81 0.010 1.000 1 2018 2018
dbSNP: rs1671153
rs1671153
2 0.925 0.120 19 55015821 intron variant G/T snv 0.74 0.010 1.000 1 2012 2012
dbSNP: rs2304167
rs2304167
2 0.925 0.120 19 55015713 missense variant C/T snv 0.80 0.74 0.010 1.000 1 2018 2018
dbSNP: rs777692567
rs777692567
5 0.827 0.200 8 42182845 missense variant G/A snv 4.0E-05 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs9550270
rs9550270
2 0.925 0.120 13 113872798 upstream gene variant T/A;G snv 0.010 1.000 1 2015 2015