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: rs204732
rs204732
1 21 31720530 intron variant G/A snp 0.11 0.010 1.000 1 2008 2008
dbSNP: rs2053044
rs2053044
3 5 148825809 5 prime UTR variant A/G snp 0.59 0.010 1.000 1 2016 2016
dbSNP: rs2070600
rs2070600
44 0.602 0.643 6 32183666 missense variant C/T snp 5.3E-02 4.4E-02 0.010 < 0.001 1 2005 2005
dbSNP: rs216311
rs216311
VWF
2 12 6019277 missense variant T/A,C snp 4.0E-06; 0.69 0.69 0.010 1.000 1 2000 2000
dbSNP: rs2237897
rs2237897
6 0.878 0.179 11 2837316 intron variant C/T snp 8.1E-02 0.010 1.000 1 2010 2010
dbSNP: rs2241766
rs2241766
23 0.679 0.393 3 186853103 synonymous variant T/C,G snp 8.0E-06; 0.13 9.0E-02 0.010 1.000 1 2014 2014
dbSNP: rs2268388
rs2268388
6 0.846 0.179 12 109205840 intron variant G/A snp 0.14 0.010 1.000 1 2013 2013
dbSNP: rs2276415
rs2276415
6 0.878 0.143 11 77590296 missense variant G/A snp 0.14 0.13 0.010 1.000 1 2016 2016
dbSNP: rs2281999
rs2281999
1 9 35381507 intron variant C/T snp 0.35 0.39 0.010 1.000 1 2008 2008
dbSNP: rs2295415
rs2295415
4 0.878 0.143 10 35212510 3 prime UTR variant A/G snp 0.20 0.010 1.000 1 2016 2016
dbSNP: rs374651285
rs374651285
ALB
2 1.000 0.071 4 73406645 missense variant G/A snp 0.010 1.000 1 2006 2006
dbSNP: rs3764880
rs3764880
5 0.846 0.214 X 12906707 start lost A/G snp 0.31 0.28 0.010 1.000 1 2016 2016
dbSNP: rs3923647
rs3923647
1 4 38797918 missense variant T/A,C,G snp 2.7E-02; 4.0E-06; 1.6E-05 3.6E-02; 3.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs397507444
rs397507444
169 0.457 0.714 1 11794407 missense variant T/G snp 0.010 1.000 1 2012 2012
dbSNP: rs41302867
rs41302867
4 0.923 0.071 6 7240643 intron variant G/A snp 8.5E-02 8.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs4293
rs4293
ACE
1 17 63478305 non coding transcript exon variant G/A snp 0.46 0.010 1.000 1 2011 2011
dbSNP: rs4309
rs4309
ACE
1 17 63482562 synonymous variant C/T snp 0.46 0.37 0.010 1.000 1 2011 2011
dbSNP: rs4343
rs4343
ACE
5 1.000 0.071 17 63488670 synonymous variant G/A snp 0.53 0.56 0.010 1.000 1 2010 2010
dbSNP: rs4728142
rs4728142
13 0.744 0.250 7 128933913 regulatory region variant G/A snp 0.38 0.010 < 0.001 1 2013 2013
dbSNP: rs4821480
rs4821480
9 0.801 0.143 22 36299201 intron variant G/T snp 0.79 0.010 1.000 1 2011 2011
dbSNP: rs4833095
rs4833095
24 0.673 0.393 4 38798089 missense variant T/C snp 0.38 0.40 0.010 1.000 1 2016 2016
dbSNP: rs4972593
rs4972593
3 1.000 0.107 2 173598126 intergenic variant T/A snp 0.19 0.010 1.000 1 2013 2013
dbSNP: rs5186
rs5186
14 0.744 0.250 3 148742201 3 prime UTR variant A/C snp 0.23 0.20 0.010 1.000 1 2013 2013
dbSNP: rs61747728
rs61747728
8 0.801 0.071 1 179557079 missense variant C/T snp 3.0E-02 2.9E-02 0.010 1.000 1 2008 2008
dbSNP: rs6610650
rs6610650
2 1.000 0.036 X 37777261 intron variant G/A snp 0.26 0.010 1.000 1 2014 2014