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: rs2289252
rs2289252
4 1.000 0.040 4 186286227 non coding transcript exon variant C/T snv 0.35 0.030 1.000 3 2009 2016
dbSNP: rs118203905
rs118203905
F5
2 1.000 0.040 1 169555300 missense variant T/C snv 6.9E-04 2.0E-04 0.010 1.000 1 2003 2003
dbSNP: rs1203757587
rs1203757587
1 1.000 0.040 1 11792279 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs12634349
rs12634349
1 1.000 0.040 3 93882955 intron variant A/G snv 0.34 0.010 1.000 1 2019 2019
dbSNP: rs13062355
rs13062355
1 1.000 0.040 3 93969667 intron variant G/A snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs13146272
rs13146272
3 1.000 0.040 4 186199057 missense variant C/A snv 0.57 0.61 0.010 1.000 1 2008 2008
dbSNP: rs1799808
rs1799808
3 1.000 0.040 2 127418286 upstream gene variant C/T snv 0.33 0.010 1.000 1 2019 2019
dbSNP: rs1799810
rs1799810
5 1.000 0.040 2 127418464 5 prime UTR variant A/T snv 0.38 0.44 0.010 1.000 1 2019 2019
dbSNP: rs2089252
rs2089252
1 1.000 0.040 4 75909495 downstream gene variant T/C snv 2.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs2097055
rs2097055
2 0.925 0.040 18 49569117 intron variant T/C snv 0.55 0.010 1.000 1 2010 2010
dbSNP: rs2232710
rs2232710
2 1.000 0.040 14 94284149 missense variant T/C snv 8.1E-03 8.1E-03 0.010 1.000 1 2016 2016
dbSNP: rs3138521
rs3138521
1 1.000 0.040 1 173917605 upstream gene variant CTAACCAAGGAAACAAACTTGGTTCATACCCA/TACCTGACTGAGGAGAAACTTGTCTGCAGGATTTTTTGTTTCTCGTTAACTAAATCAGAAGATAGAAATAGTTAATGTCCAAAAACTTCTAGCCCTCTACCTGTAATT delins 0.010 1.000 1 2017 2017
dbSNP: rs422187
rs422187
F9
1 1.000 0.040 X 139550700 intron variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs4987262
rs4987262
4 0.882 0.040 19 46623592 missense variant G/A;C snv 7.1E-03 0.010 1.000 1 2008 2008
dbSNP: rs556266847
rs556266847
F5
1 1.000 0.040 1 169550655 missense variant A/G snv 0.010 1.000 1 1998 1998
dbSNP: rs573703484
rs573703484
1 1.000 0.040 17 81845659 missense variant C/T snv 2.4E-05 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs6048
rs6048
F9
2 1.000 0.040 X 139551121 missense variant A/G snv 0.22 0.23 0.010 1.000 1 2009 2009
dbSNP: rs6441600
rs6441600
1 1.000 0.040 3 93956895 intron variant C/G snv 0.97 0.010 1.000 1 2019 2019
dbSNP: rs747301897
rs747301897
3 1.000 0.040 19 45363999 synonymous variant G/A snv 7.1E-06 0.010 1.000 1 2011 2011
dbSNP: rs752714051
rs752714051
PC
1 1.000 0.040 11 66871317 missense variant G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs7586970
rs7586970
2 0.925 0.040 2 187478770 missense variant T/C;G snv 0.29 0.010 1.000 1 2009 2009
dbSNP: rs762607581
rs762607581
F2
1 1.000 0.040 11 46739317 missense variant G/A snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs773761677
rs773761677
1 1.000 0.040 2 127428444 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs780533499
rs780533499
1 1.000 0.040 20 23048100 missense variant C/A;T snv 4.1E-06 0.010 1.000 1 2007 2007
dbSNP: rs1164821473
rs1164821473
F5
2 0.925 0.080 1 169546573 missense variant T/A;C snv 0.010 1.000 1 2017 2017