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: rs20541
rs20541
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.800 1.000 1 2013 2013
dbSNP: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.700 1.000 1 2017 2017
dbSNP: rs61816761
rs61816761
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs204999
rs204999
13 0.763 0.480 6 32142202 intergenic variant A/G snv 0.28 0.700 1.000 1 2013 2013
dbSNP: rs4833095
rs4833095
28 0.662 0.480 4 38798089 missense variant T/C snv 0.38 0.44 0.700 1.000 1 2013 2013
dbSNP: rs7216389
rs7216389
14 0.732 0.440 17 39913696 intron variant C/T snv 0.60 0.700 1.000 1 2013 2013
dbSNP: rs12232497
rs12232497
18 0.701 0.360 17 39883866 intergenic variant T/C snv 0.35 0.700 1.000 1 2013 2013
dbSNP: rs1342326
rs1342326
9 0.790 0.360 9 6190076 intergenic variant A/C snv 0.21 0.700 1.000 1 2013 2013
dbSNP: rs2290400
rs2290400
9 0.790 0.360 17 39909987 intron variant T/C snv 0.48 0.700 1.000 1 2013 2013
dbSNP: rs2856718
rs2856718
8 0.790 0.360 6 32702478 downstream gene variant C/T snv 0.34 0.700 1.000 1 2013 2013
dbSNP: rs2872507
rs2872507
12 0.752 0.360 17 39884510 intergenic variant G/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs3806933
rs3806933
7 0.807 0.360 5 111071044 5 prime UTR variant C/A;T snv 0.40 0.700 1.000 1 2013 2013
dbSNP: rs3939286
rs3939286
12 0.776 0.360 9 6210099 regulatory region variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs5743618
rs5743618
25 0.677 0.360 4 38797027 missense variant C/A snv 0.53 0.51 0.700 1.000 1 2017 2017
dbSNP: rs5743810
rs5743810
21 0.689 0.360 4 38828729 missense variant A/G snv 0.73 0.72 0.700 1.000 1 2013 2013
dbSNP: rs10004195
rs10004195
8 0.790 0.320 4 38783103 upstream gene variant T/A snv 0.29 0.700 1.000 1 2013 2013
dbSNP: rs11171739
rs11171739
10 0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49 0.700 1.000 1 2018 2018
dbSNP: rs3763313
rs3763313
7 0.807 0.320 6 32408694 upstream gene variant A/C snv 0.21 0.700 1.000 1 2013 2013
dbSNP: rs6906021
rs6906021
6 0.827 0.320 6 32658534 upstream gene variant T/C snv 0.47 0.800 1.000 1 2013 2013
dbSNP: rs7927894
rs7927894
12 0.742 0.320 11 76590272 upstream gene variant C/T snv 0.35 0.700 1.000 1 2013 2013
dbSNP: rs61839660
rs61839660
9 0.776 0.280 10 6052734 intron variant C/T snv 5.7E-02 0.700 1.000 2 2017 2018
dbSNP: rs1048990
rs1048990
8 0.790 0.280 14 35292469 5 prime UTR variant C/G;T snv 0.19; 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1143633
rs1143633
11 0.752 0.280 2 112832890 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1420101
rs1420101
8 0.827 0.280 2 102341256 synonymous variant C/T snv 0.33 0.35 0.700 1.000 1 2013 2013
dbSNP: rs1464510
rs1464510
LPP
9 0.807 0.280 3 188394766 intron variant C/A;T snv 0.700 1.000 1 2013 2013