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: rs6759676
rs6759676
1 2 113078771 downstream gene variant C/T snv 0.56 0.700 1.000 1 2014 2014
dbSNP: rs12711751
rs12711751
2 2 113080188 downstream gene variant T/G snv 0.61 0.700 1.000 1 2016 2016
dbSNP: rs13409360
rs13409360
2 2 113080525 downstream gene variant G/A snv 0.38 0.700 1.000 1 2016 2016
dbSNP: rs13409371
rs13409371
1 2 113080568 downstream gene variant G/A;C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs6734238
rs6734238
8 1.000 0.080 2 113083453 upstream gene variant A/G snv 0.39 0.800 1.000 5 2011 2019
dbSNP: rs6781222
rs6781222
1 3 115407022 intron variant G/A snv 0.41 0.700 1.000 1 2012 2012
dbSNP: rs3822857
rs3822857
FRK
3 6 115992768 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs12202641
rs12202641
FRK
1 6 115993471 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2064009
rs2064009
1 8 115995625 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs6987444
rs6987444
1 8 116064090 intron variant G/A snv 0.68 0.700 1.000 1 2018 2018
dbSNP: rs1396485
rs1396485
1 5 116176655 intron variant G/A snv 0.32 0.700 1.000 1 2012 2012
dbSNP: rs6901250
rs6901250
1 6 116792862 synonymous variant G/A snv 0.33 0.29 0.800 1.000 1 2011 2011
dbSNP: rs1736060
rs1736060
1 8 11807229 intron variant C/G;T snv 0.54 0.700 1.000 1 2018 2018
dbSNP: rs1616534
rs1616534
1 8 11808942 intron variant C/G;T snv 9.8E-06; 0.58 0.700 1.000 1 2018 2018
dbSNP: rs10435719
rs10435719
2 8 11919395 downstream gene variant C/T snv 0.48 0.700 1.000 1 2016 2016
dbSNP: rs2686555
rs2686555
2 12 120657369 intron variant A/G snv 0.52 0.700 1.000 1 2016 2016
dbSNP: rs4871137
rs4871137
2 8 120856311 intergenic variant G/T snv 0.55 0.700 1.000 1 2016 2016
dbSNP: rs2649999
rs2649999
1 12 120942741 intron variant T/C snv 0.70 0.700 1.000 1 2013 2013
dbSNP: rs2650000
rs2650000
10 0.851 0.200 12 120951159 intron variant A/C snv 0.70 0.800 1.000 3 2012 2019
dbSNP: rs7305618
rs7305618
3 0.925 0.160 12 120965129 intron variant C/T snv 0.28 0.800 1.000 4 2012 2019
dbSNP: rs7953249
rs7953249
4 0.882 0.160 12 120965921 splice region variant G/A snv 0.59 0.800 1.000 5 2012 2019
dbSNP: rs1920792
rs1920792
2 1.000 0.080 12 120966781 intron variant T/C snv 0.43 0.700 1.000 1 2014 2014
dbSNP: rs2251468
rs2251468
2 12 120967323 intron variant C/A;G;T snv 0.700 1.000 2 2012 2013
dbSNP: rs10774579
rs10774579
1 12 120967407 intron variant T/C snv 0.43 0.700 1.000 2 2012 2013
dbSNP: rs1169288
rs1169288
21 0.776 0.160 12 120978847 missense variant A/C;T snv 0.35 0.700 1.000 1 2012 2012