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: rs12542907
rs12542907
5 8 67900953 intergenic variant C/G snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs12550612
rs12550612
5 8 23109256 intron variant G/A snv 0.83 0.700 1.000 1 2016 2016
dbSNP: rs12600856
rs12600856
5 17 40007042 intergenic variant T/C;G snv 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: rs12936529
rs12936529
3 17 16265470 intron variant C/T snv 0.42 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: rs138488218
rs138488218
4 12 53354069 regulatory region variant A/T snv 7.6E-03 0.700 1.000 1 2016 2016
dbSNP: rs139707092
rs139707092
5 2 168850753 intron variant TCTCTGGAAT/-;TCTCTGGAATTCTCTGGAAT delins 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: rs143699489
rs143699489
4 3 141208279 intergenic variant A/G snv 0.22 0.700 1.000 1 2016 2016
dbSNP: rs14408
rs14408
4 11 308314 missense variant T/C;G snv 0.53 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: rs146318841
rs146318841
4 6 135328483 intron variant TGCCATAAACCATAGCCATAG/-;TGCCATAAACCATAGCCATAGTGCCATAAACCATAGCCATAG delins 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
dbSNP: rs147694761
rs147694761
5 18 23571654 intron variant AAAA/-;A;AA;AAA;AAAAA;AAAAAA delins 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: rs1570884
rs1570884
4 13 49547375 intron variant A/G snv 0.58 0.700 1.000 1 2016 2016
dbSNP: rs16978075
rs16978075
5 18 44533186 intron variant T/C snv 8.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs174555
rs174555
4 11 61812288 intron variant T/C snv 0.26 0.700 1.000 1 2016 2016
dbSNP: rs17592479
rs17592479
4 1 226986191 intron variant T/A snv 0.41 0.700 1.000 1 2016 2016
dbSNP: rs192022
rs192022
5 11 108378047 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1968252
rs1968252
5 19 7782850 upstream gene variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1969949
rs1969949
3 9 305428 intron variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1982094
rs1982094
5 8 129612570 intron variant C/T snv 4.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs1991651
rs1991651
4 8 10848901 downstream gene variant C/G snv 0.63 0.700 1.000 1 2016 2016