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: rs3917914
rs3917914
5 1 36482287 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs397731840
rs397731840
5 8 129599504 intron variant TT/-;T;TTT;TTTT;TTTTT delins 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: rs398032702
rs398032702
4 18 46245574 intron variant AA/-;A;AAA;AAAA;AAAAAAA;AAAAAAAAAAAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs5747327
rs5747327
1 22 17686446 intron variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs575404063
rs575404063
4 19 18405498 intergenic variant AAA/-;A;AA;AAAA;AAAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs5820258
rs5820258
3 17 38437623 intron variant CC/-;C;CCC;CCCC;CCCCC delins 0.700 1.000 1 2016 2016
dbSNP: rs635634
rs635634
22 0.882 0.160 9 133279427 upstream gene variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs6500550
rs6500550
5 16 3696240 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs71191701
rs71191701
4 9 136427805 downstream gene variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs7705526
rs7705526
15 0.776 0.240 5 1285859 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs778387
rs778387
4 1 56158423 intron variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs791357
rs791357
4 5 173778222 downstream gene variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs8068017
rs8068017
3 17 1417822 downstream gene variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs8179
rs8179
8 0.882 0.080 7 92606850 3 prime UTR variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs8705
rs8705
5 11 128459018 3 prime UTR variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs930232
rs930232
1 19 1036019 intron variant G/A;C snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs9872440
rs9872440
1 3 42854959 intron variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs555346412
rs555346412
5 12 112191863 intron variant G/C snv 8.2E-04 0.700 1.000 1 2016 2016
dbSNP: rs55799208
rs55799208
5 2 218135259 missense variant G/A snv 1.4E-03 1.4E-03 0.700 1.000 1 2016 2016
dbSNP: rs143034248
rs143034248
7 11 118210555 missense variant C/T snv 4.0E-03 3.5E-03 0.700 1.000 1 2016 2016
dbSNP: rs150813342
rs150813342
9 9 132989126 synonymous variant C/T snv 4.1E-03 4.1E-03 0.700 1.000 1 2016 2016
dbSNP: rs114050631
rs114050631
5 2 218156235 regulatory region variant C/T snv 6.9E-03 0.700 1.000 1 2016 2016
dbSNP: rs138488218
rs138488218
4 12 53354069 regulatory region variant A/T snv 7.6E-03 0.700 1.000 1 2016 2016
dbSNP: rs146890554
rs146890554
5 17 40017384 3 prime UTR variant C/T snv 9.6E-03 0.700 1.000 1 2016 2016