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: rs1044396
rs1044396
17 0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05 0.040 1.000 4 2004 2016
dbSNP: rs1044397
rs1044397
7 0.851 0.160 20 63349752 synonymous variant C/T snv 0.48 0.41 0.040 1.000 4 2004 2013
dbSNP: rs2236196
rs2236196
1 1.000 0.080 20 63346204 3 prime UTR variant G/A;C snv 0.71 0.020 1.000 2 2005 2009
dbSNP: rs1044394
rs1044394
1 1.000 0.080 20 63350733 synonymous variant A/G snv 0.92 0.81 0.010 1.000 1 2011 2011
dbSNP: rs2273504
rs2273504
1 1.000 0.080 20 63356709 intron variant G/A;T snv 0.010 1.000 1 2005 2005
dbSNP: rs2273505
rs2273505
1 1.000 0.080 20 63359526 non coding transcript exon variant C/T snv 4.0E-06; 9.2E-02 9.5E-02 0.010 1.000 1 2005 2005
dbSNP: rs3787137
rs3787137
1 1.000 0.080 20 63347748 intron variant G/A snv 0.42 0.010 1.000 1 2005 2005
dbSNP: rs56175056
rs56175056
1 1.000 0.080 20 63350405 missense variant G/A;T snv 3.3E-04; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs755203
rs755203
1 1.000 0.080 20 63362912 intron variant G/A;C snv 0.42 0.010 1.000 1 2013 2013