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: rs3130628
rs3130628
2 1.000 0.120 6 31641495 non coding transcript exon variant T/C snv 0.15 0.18 0.700 1.000 1 2013 2013
dbSNP: rs652888
rs652888
10 0.776 0.480 6 31883457 non coding transcript exon variant A/G snv 0.18 0.20 0.700 1.000 1 2013 2013
dbSNP: rs9268832
rs9268832
4 0.882 0.160 6 32460012 non coding transcript exon variant T/C snv 0.61 0.59 0.700 1.000 1 2013 2013
dbSNP: rs1048369
rs1048369
4 0.882 0.160 X 133303309 missense variant G/A snv 0.33 0.38 0.010 1.000 1 2019 2019
dbSNP: rs10885
rs10885
1 6 31636814 missense variant C/T snv 0.14 0.17 0.700 1.000 1 2013 2013
dbSNP: rs28362680
rs28362680
1 6 32403039 missense variant G/A snv 0.14 0.12 0.700 1.000 1 2013 2013
dbSNP: rs3130618
rs3130618
7 0.827 0.360 6 31664357 missense variant C/A;T snv 0.15; 4.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs7192
rs7192
7 0.827 0.200 6 32443869 missense variant T/G snv 0.64 0.61 0.700 1.000 1 2013 2013
dbSNP: rs80274284
rs80274284
1 1 116037356 missense variant G/T snv 0.700 1.000 1 2017 2017
dbSNP: rs9267532
rs9267532
2 1.000 0.120 6 31672202 missense variant C/T snv 7.4E-02 7.9E-02 0.700 1.000 1 2013 2013
dbSNP: rs200688486
rs200688486
1 6 32621223 regulatory region variant -/T delins 0.700 1.000 1 2013 2013
dbSNP: rs5861895
rs5861895
1 4 129344228 regulatory region variant TT/-;T;TTT delins 0.700 1.000 1 2017 2017
dbSNP: rs7754768
rs7754768
2 1.000 0.040 6 32452402 regulatory region variant C/T snv 0.56 0.700 1.000 1 2013 2013
dbSNP: rs9271488
rs9271488
1 6 32621223 regulatory region variant G/T snv 0.27 0.700 1.000 1 2013 2013
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: rs2516049
rs2516049
12 0.742 0.400 6 32602623 intergenic variant T/C snv 0.27 0.700 1.000 1 2013 2013
dbSNP: rs314879
rs314879
1 13 22735243 intergenic variant C/T snv 0.78 0.700 1.000 1 2017 2017
dbSNP: rs477515
rs477515
10 0.790 0.400 6 32601914 intergenic variant G/A snv 0.27 0.800 1.000 1 2013 2013
dbSNP: rs1161098
rs1161098
1 12 67453680 intron variant G/A snv 0.84 0.700 1.000 1 2017 2017
dbSNP: rs116671518
rs116671518
1 4 107189709 intron variant T/C snv 1.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs12759054
rs12759054
3 1.000 0.040 1 233984064 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs204992
rs204992
1 6 32189131 intron variant G/A snv 0.22 0.700 1.000 1 2013 2013
dbSNP: rs2153486
rs2153486
1 14 87737048 intron variant C/T snv 0.68 0.700 1.000 1 2017 2017
dbSNP: rs2239802
rs2239802
4 0.882 0.200 6 32444069 intron variant C/A;G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs2239803
rs2239803
4 0.882 0.240 6 32444056 intron variant C/A;T snv 0.50 0.700 1.000 1 2013 2013