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: rs12644950
rs12644950
3 4 154616169 upstream gene variant G/A snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs1801690
rs1801690
6 0.925 0.120 17 66212167 missense variant C/G snv 4.8E-02 4.0E-02 0.700 1.000 1 2018 2018
dbSNP: rs4253276
rs4253276
1 4 186242705 intron variant G/C snv 5.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs4253421
rs4253421
F11
2 4 186283783 intron variant A/C;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs5030081
rs5030081
1 3 186741121 intron variant G/A snv 0.43 0.700 1.000 1 2018 2018
dbSNP: rs56810541
rs56810541
F11
1 4 186279396 intron variant A/T snv 0.35 0.700 1.000 1 2018 2018
dbSNP: rs6013
rs6013
F5
1 1 169518583 intron variant G/A;T snv 2.6E-04; 6.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs687289
rs687289
ABO
15 1.000 0.120 9 133261703 intron variant A/G snv 0.700 1.000 1 2018 2018
dbSNP: rs7895470
rs7895470
1 10 19946534 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs79105258
rs79105258
24 12 111280427 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs7962629
rs7962629
C1S
1 12 7059466 intron variant A/G snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs1801020
rs1801020
8 1.000 0.040 5 177409531 5 prime UTR variant A/G snv 0.65 0.67 0.800 1.000 2 2013 2018
dbSNP: rs1042445
rs1042445
3 3 186677647 missense variant C/A;T snv 0.27 0.700 1.000 1 2013 2013
dbSNP: rs13177732
rs13177732
1 5 177429924 intron variant T/G snv 0.16 0.700 1.000 1 2013 2013
dbSNP: rs1621816
rs1621816
1 3 186721384 non coding transcript exon variant T/C snv 0.32 0.700 1.000 1 2013 2013
dbSNP: rs1624230
rs1624230
1 3 186721146 intron variant C/A snv 0.42 0.700 1.000 1 2013 2013
dbSNP: rs1624569
rs1624569
1 3 186732280 intron variant T/C snv 0.38 0.700 1.000 1 2013 2013
dbSNP: rs16860992
rs16860992
3 1.000 0.080 3 186676249 intron variant G/C;T snv 0.700 1.000 1 2013 2013
dbSNP: rs17876032
rs17876032
1 5 177403626 non coding transcript exon variant G/A;C;T snv 0.52; 6.2E-04; 1.8E-04 0.700 1.000 1 2013 2013
dbSNP: rs2062632
rs2062632
1 3 186743392 3 prime UTR variant T/C snv 0.19 0.700 1.000 1 2013 2013
dbSNP: rs2228243
rs2228243
3 1.000 0.080 3 186677324 missense variant A/G;T snv 0.20; 4.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs2287694
rs2287694
2 5 177433292 intron variant T/C snv 8.5E-02 0.700 1.000 1 2013 2013
dbSNP: rs2304595
rs2304595
3 1.000 0.040 4 186251126 non coding transcript exon variant G/A snv 0.36 0.700 1.000 1 2013 2013
dbSNP: rs266723
rs266723
1 3 186729258 intron variant A/C snv 0.44 0.700 1.000 1 2013 2013
dbSNP: rs3856930
rs3856930
1 3 186740533 intron variant C/T snv 0.27 0.700 1.000 1 2013 2013