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: rs112682076
rs112682076
2 1 10297748 intron variant G/C snv 5.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs145611121
rs145611121
1 1 3402268 intron variant -/C;CC delins 0.700 1.000 1 2016 2016
dbSNP: rs17400517
rs17400517
1 1 161515469 intron variant G/T snv 8.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs366684
rs366684
3 1 214013919 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs533281866
rs533281866
3 1 231422308 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs576195416
rs576195416
1 1 231374522 intron variant TT/-;T;TTT;TTTT;TTTTTTTTTTTT delins 0.700 1.000 1 2016 2016
dbSNP: rs629301
rs629301
22 0.851 0.120 1 109275684 3 prime UTR variant G/T snv 0.74 0.700 1.000 1 2016 2016
dbSNP: rs7541039
rs7541039
2 1 214003436 intron variant C/T snv 0.27 0.700 1.000 1 2016 2016
dbSNP: rs760077
rs760077
8 0.925 0.120 1 155208991 missense variant T/A snv 0.36 0.700 1.000 1 2016 2016
dbSNP: rs770551112
rs770551112
1 1 52849688 intron variant -/CT;CTT ins 0.700 1.000 1 2016 2016
dbSNP: rs10168349
rs10168349
4 2 46133768 intron variant G/C snv 0.36 0.800 1.000 3 2009 2018
dbSNP: rs4953318
rs4953318
5 2 46127912 intron variant A/C snv 0.43 0.700 1.000 2 2012 2017
dbSNP: rs10495928
rs10495928
5 2 46126027 intron variant A/G snv 0.36 0.700 1.000 1 2016 2016
dbSNP: rs114948639
rs114948639
3 2 46066687 intron variant C/T snv 7.2E-03 0.700 1.000 1 2016 2016
dbSNP: rs11689538
rs11689538
3 2 121238062 intron variant G/C snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs1260326
rs1260326
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 1 2016 2016
dbSNP: rs13008603
rs13008603
5 2 46128709 intron variant C/A snv 0.10 0.700 1.000 1 2013 2013
dbSNP: rs138308793
rs138308793
1 2 111493181 intron variant G/A snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs17034641
rs17034641
3 2 46145505 intron variant G/A snv 0.16 0.700 1.000 1 2017 2017
dbSNP: rs1728918
rs1728918
19 0.827 0.160 2 27412596 upstream gene variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs17773190
rs17773190
3 2 46803224 intron variant A/G snv 0.32 0.700 1.000 1 2016 2016
dbSNP: rs17799476
rs17799476
2 2 46125187 intron variant C/G snv 0.13 0.700 1.000 1 2016 2016
dbSNP: rs222826
rs222826
16 0.851 0.120 2 146120964 regulatory region variant T/C snv 0.94 0.700 1.000 1 2016 2016
dbSNP: rs2303566
rs2303566
2 2 218693015 intron variant G/A;T snv 0.56 0.700 1.000 1 2016 2016
dbSNP: rs4662402
rs4662402
1 2 144886978 intron variant C/T snv 0.67 0.700 1.000 1 2016 2016