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: rs12132140
rs12132140
1 1.000 0.040 1 157797572 intron variant C/T snv 3.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs1891467
rs1891467
2 0.925 0.040 1 218406643 intron variant A/G snv 0.34 0.010 1.000 1 2011 2011
dbSNP: rs206530
rs206530
2 0.925 0.040 18 10394467 downstream gene variant T/C snv 0.70 0.010 < 0.001 1 2012 2012
dbSNP: rs2076530
rs2076530
17 0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40 0.010 1.000 1 2012 2012
dbSNP: rs3087456
rs3087456
14 0.742 0.480 16 10877045 intron variant G/A snv 0.53 0.010 1.000 1 2010 2010
dbSNP: rs3129843
rs3129843
5 0.827 0.160 6 32427949 intergenic variant A/G snv 6.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs3135365
rs3135365
1 1.000 0.040 6 32421478 intergenic variant C/A snv 0.79 0.010 1.000 1 2017 2017
dbSNP: rs3177928
rs3177928
8 0.882 0.120 6 32444658 3 prime UTR variant G/A snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs3917200
rs3917200
3 0.882 0.080 14 75963525 intron variant A/G snv 9.2E-02 0.14 0.010 1.000 1 2011 2011
dbSNP: rs5007259
rs5007259
2 0.925 0.040 6 32411324 upstream gene variant T/C snv 0.55 0.010 1.000 1 2017 2017
dbSNP: rs61780312
rs61780312
1 1.000 0.040 1 67195965 intron variant T/G snv 4.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs6937545
rs6937545
1 1.000 0.040 6 32450254 intergenic variant A/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs755622
rs755622
44 0.611 0.720 22 23894205 intron variant G/C snv 0.26 0.010 1.000 1 2014 2014