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: rs12759054
rs12759054
3 1.000 0.040 1 233984064 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs200655768
rs200655768
1 2 178711222 synonymous variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs200688486
rs200688486
1 6 32621223 regulatory region variant -/T delins 0.700 1.000 1 2013 2013
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: rs2239804
rs2239804
5 0.851 0.240 6 32443746 intron variant T/A;C snv 0.51 0.700 1.000 1 2013 2013
dbSNP: rs28366298
rs28366298
3 0.925 0.120 6 32593082 upstream gene variant A/C;T snv 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: rs4935356
rs4935356
2 1.000 0.080 6 32444611 intron variant T/A;G snv 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: rs6901541
rs6901541
2 1.000 0.120 6 32474484 upstream gene variant T/C;G snv 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: rs8084
rs8084
2 1.000 0.120 6 32443258 splice acceptor variant A/C;T snv 0.61; 8.1E-06 0.700 1.000 1 2013 2013
dbSNP: rs9268658
rs9268658
2 1.000 0.040 6 32442939 intron variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs116671518
rs116671518
1 4 107189709 intron variant T/C snv 1.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs138117677
rs138117677
1 16 3348899 TF binding site variant GGGACT/- delins 2.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs9267536
rs9267536
1 6 31683417 intron variant A/C snv 5.3E-02 0.700 1.000 1 2013 2013
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: rs2854275
rs2854275
4 0.925 0.120 6 32660651 non coding transcript exon variant C/A snv 9.6E-02 0.800 1.000 1 2013 2013
dbSNP: rs62309385
rs62309385
1 4 136134743 intron variant G/C snv 9.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs6105452
rs6105452
1 20 15683126 intron variant C/T snv 0.10 0.700 1.000 1 2017 2017
dbSNP: rs28362683
rs28362683
2 1.000 0.040 6 32405186 synonymous variant G/A snv 0.12 0.10 0.700 1.000 1 2013 2013
dbSNP: rs10947261
rs10947261
4 0.882 0.240 6 32405455 splice region variant G/T snv 0.11 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: rs10947262
rs10947262
3 0.925 0.040 6 32405535 non coding transcript exon variant C/T snv 0.12 0.700 1.000 1 2013 2013
dbSNP: rs10885
rs10885
1 6 31636814 missense variant C/T snv 0.14 0.17 0.700 1.000 1 2013 2013