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: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.030 1.000 3 2009 2012
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.020 1.000 2 2007 2017
dbSNP: rs12807809
rs12807809
4 0.882 0.160 11 124736389 upstream gene variant T/C snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs1426891
rs1426891
1 1.000 0.120 15 26472746 intron variant G/A snv 0.29 0.010 1.000 1 2012 2012
dbSNP: rs165599
rs165599
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2009 2009
dbSNP: rs1801028
rs1801028
24 0.716 0.200 11 113412762 missense variant G/C snv 2.7E-02 1.8E-02 0.010 1.000 1 1996 1996
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2017 2017
dbSNP: rs1805054
rs1805054
17 0.708 0.200 1 19666020 synonymous variant C/T snv 0.15; 8.0E-06 0.16 0.010 1.000 1 2005 2005
dbSNP: rs2146323
rs2146323
13 0.752 0.480 6 43777358 non coding transcript exon variant C/A snv 0.31 0.010 1.000 1 2018 2018
dbSNP: rs2396753
rs2396753
3 0.925 0.160 7 114508276 intron variant C/A;G snv 0.010 1.000 1 2011 2011
dbSNP: rs2912600
rs2912600
1 1.000 0.120 15 26475396 intron variant A/G snv 0.28 0.010 1.000 1 2012 2012
dbSNP: rs2912602
rs2912602
1 1.000 0.120 15 26474092 intron variant G/A snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.010 1.000 1 2009 2009
dbSNP: rs3746444
rs3746444
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2012 2012
dbSNP: rs3751082
rs3751082
2 0.925 0.160 11 68027885 synonymous variant G/A snv 0.21 0.19 0.010 1.000 1 2009 2009
dbSNP: rs387906639
rs387906639
4 0.925 0.120 5 140674776 missense variant T/G snv 2.0E-05 9.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs4633
rs4633
25 0.695 0.400 22 19962712 synonymous variant C/T snv 0.46 0.45 0.010 1.000 1 2009 2009
dbSNP: rs474559
rs474559
1 1.000 0.120 9 32614094 regulatory region variant G/A snv 1.1E-02 0.010 1.000 1 2017 2017