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: rs10982156
rs10982156
2 9 114325784 intron variant T/A snv 7.0E-02 0.700 1.000 1 2013 2013
dbSNP: rs12116643
rs12116643
3 1 197004053 intron variant T/C snv 0.19 0.700 1.000 1 2013 2013
dbSNP: rs1410996
rs1410996
CFH
11 0.807 0.240 1 196727803 intron variant G/A snv 0.46 0.700 1.000 1 2013 2013
dbSNP: rs2022309
rs2022309
2 1 94586920 intron variant G/T snv 0.23 0.700 1.000 1 2013 2013
dbSNP: rs3024321
rs3024321
2 6 6317893 intron variant A/G snv 0.29 0.700 1.000 1 2013 2013
dbSNP: rs3211770
rs3211770
F10
2 13 113139535 intron variant G/A snv 0.11 0.700 1.000 1 2013 2013
dbSNP: rs379440
rs379440
2 5 112357674 intron variant T/C snv 3.5E-02 0.700 1.000 1 2011 2011
dbSNP: rs4915559
rs4915559
4 1.000 0.040 1 196917640 intron variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs6041
rs6041
F7
2 13 113118393 intron variant G/A snv 0.13 0.12 0.700 1.000 1 2013 2013
dbSNP: rs6708166
rs6708166
LBH
2 2 30303914 intron variant G/A snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs687289
rs687289
ABO
15 1.000 0.120 9 133261703 intron variant A/G snv 0.700 1.000 1 2013 2013
dbSNP: rs7410943
rs7410943
2 1 197185891 intron variant A/G snv 0.44 0.700 1.000 1 2013 2013
dbSNP: rs8176704
rs8176704
ABO
5 0.925 0.080 9 133260148 intron variant G/A snv 0.700 1.000 1 2013 2013
dbSNP: rs11243081
rs11243081
2 6 6337273 intergenic variant C/T snv 0.23 0.700 1.000 1 2013 2013
dbSNP: rs1318606
rs1318606
2 6 6331703 intergenic variant T/C snv 0.38 0.700 1.000 1 2013 2013
dbSNP: rs17142067
rs17142067
2 6 6341054 intergenic variant A/C;G snv 0.23 0.700 1.000 1 2013 2013
dbSNP: rs4686760
rs4686760
2 3 184796825 intergenic variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs9533425
rs9533425
2 13 43196338 regulatory region variant G/C snv 0.14 0.700 1.000 1 2013 2013
dbSNP: rs1063856
rs1063856
VWF
14 0.763 0.400 12 6044368 missense variant T/C;G snv 0.31 0.700 1.000 1 2013 2013
dbSNP: rs5985
rs5985
20 0.724 0.280 6 6318562 missense variant C/A;T snv 0.20; 2.4E-05 0.700 1.000 1 2013 2013
dbSNP: rs1063857
rs1063857
VWF
4 12 6044348 synonymous variant A/G snv 0.31 0.40 0.700 1.000 1 2013 2013
dbSNP: rs10922162
rs10922162
2 1 197101646 synonymous variant C/T snv 0.26 0.16 0.700 1.000 1 2013 2013
dbSNP: rs8176749
rs8176749
ABO
7 1.000 0.040 9 133255801 synonymous variant C/T snv 0.12 0.11 0.700 1.000 1 2013 2013
dbSNP: rs10665
rs10665
2 13 113098517 3 prime UTR variant A/G snv 0.12 0.700 1.000 1 2013 2013
dbSNP: rs2181540
rs2181540
2 13 113098850 3 prime UTR variant T/C snv 0.15 0.700 1.000 1 2013 2013