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: rs58548501
rs58548501
4 4 54635119 intergenic variant -/A;ATTTTTTTTTA ins 0.43 0.700 1.000 1 2016 2016
dbSNP: rs145013566
rs145013566
5 2 218297998 intron variant -/C ins 0.700 1.000 1 2016 2016
dbSNP: rs397933924
rs397933924
5 10 97314229 upstream gene variant -/CAGGTTCAAGCGA ins 0.700 1.000 1 2016 2016
dbSNP: rs11428934
rs11428934
4 19 48640988 intron variant -/G ins 0.700 1.000 1 2016 2016
dbSNP: rs77936863
rs77936863
1 17 74700954 intron variant A/- del 0.54 0.700 1.000 1 2016 2016
dbSNP: rs11405616
rs11405616
4 5 142130697 intron variant A/-;AA;AAA;AAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs11654074
rs11654074
5 17 59748211 intron variant A/C snv 0.40 0.700 1.000 1 2016 2016
dbSNP: rs2802372
rs2802372
1 10 79287818 intron variant A/C snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs56232812
rs56232812
4 1 27859995 intergenic variant A/C snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs10075801
rs10075801
5 5 132341949 intron variant A/G snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs11725704
rs11725704
5 4 74094279 downstream gene variant A/G snv 0.28 0.700 1.000 1 2016 2016
dbSNP: rs12752838
rs12752838
4 1 8853597 upstream gene variant A/G snv 0.54 0.700 1.000 1 2016 2016
dbSNP: rs1352846
rs1352846
GC
4 4 71752058 intron variant A/G snv 0.22 0.700 1.000 1 2016 2016
dbSNP: rs143699489
rs143699489
4 3 141208279 intergenic variant A/G snv 0.22 0.700 1.000 1 2016 2016
dbSNP: rs1570884
rs1570884
4 13 49547375 intron variant A/G snv 0.58 0.700 1.000 1 2016 2016
dbSNP: rs2338224
rs2338224
5 5 72432861 intergenic variant A/G snv 0.85 0.700 1.000 1 2016 2016
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2016 2016
dbSNP: rs3735485
rs3735485
6 7 44969742 missense variant A/G snv 0.87 0.88 0.700 1.000 1 2016 2016
dbSNP: rs4760
rs4760
8 1.000 0.080 19 43648948 missense variant A/G snv 0.12 0.11 0.700 1.000 1 2016 2016
dbSNP: rs56378716
rs56378716
MPO
6 1.000 0.080 17 58279141 missense variant A/G snv 1.0E-02 9.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs6740847
rs6740847
8 0.925 0.040 2 181443625 intergenic variant A/G snv 0.57 0.700 1.000 1 2016 2016
dbSNP: rs73036517
rs73036517
4 19 45241584 intron variant A/G snv 0.20 0.700 1.000 1 2016 2016
dbSNP: rs7575217
rs7575217
3 2 101160470 intron variant A/G snv 0.68 0.700 1.000 1 2016 2016
dbSNP: rs834603
rs834603
4 7 47408324 intron variant A/G snv 0.47 0.700 1.000 1 2016 2016
dbSNP: rs10858740
rs10858740
5 12 88451258 intergenic variant A/G;T snv 0.56 0.700 1.000 1 2016 2016