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: rs104886003
rs104886003
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs121913279
rs121913279
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs121913286
rs121913286
23 0.677 0.280 3 179218306 missense variant C/A;G snv 0.700 0
dbSNP: rs11175194
rs11175194
2 0.925 0.120 12 63871057 intron variant G/A snv 0.15 0.710 1.000 1 2014 2014
dbSNP: rs1192691
rs1192691
2 0.925 0.120 10 36880367 regulatory region variant G/T snv 0.90 0.710 1.000 1 2014 2014
dbSNP: rs1413299
rs1413299
2 0.925 0.120 9 98998959 intron variant G/A;T snv 0.710 1.000 1 2014 2014
dbSNP: rs142091544
rs142091544
2 0.925 0.120 5 168286995 upstream gene variant C/T snv 2.1E-02 0.710 1.000 1 2019 2019
dbSNP: rs4286604
rs4286604
2 0.925 0.120 4 69576447 intron variant A/G snv 0.76 0.710 1.000 1 2019 2019
dbSNP: rs4525119
rs4525119
2 0.925 0.120 10 5049762 intron variant C/T snv 0.30 0.710 1.000 1 2019 2019
dbSNP: rs7643459
rs7643459
2 0.925 0.120 3 7963141 intron variant G/C;T snv 0.710 1.000 1 2019 2019
dbSNP: rs10069690
rs10069690
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.700 1.000 1 2015 2015
dbSNP: rs10088218
rs10088218
4 0.851 0.120 8 128531703 intron variant G/A snv 0.13 0.700 1.000 1 2015 2015
dbSNP: rs115344852
rs115344852
1 1.000 0.120 6 28518321 intron variant A/C snv 0.700 1.000 1 2015 2015
dbSNP: rs12039431
rs12039431
1 1.000 0.120 1 37616450 intron variant G/A snv 0.24 0.21 0.700 1.000 1 2015 2015
dbSNP: rs1574560
rs1574560
1 1.000 0.120 3 166329716 intergenic variant T/C snv 0.42 0.700 1.000 1 2018 2018
dbSNP: rs1614627
rs1614627
1 1.000 0.120 1 20620263 downstream gene variant A/C snv 0.86 0.700 1.000 1 2018 2018
dbSNP: rs17130142
rs17130142
1 1.000 0.120 1 87773925 intron variant G/A snv 6.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs183211
rs183211
4 0.882 0.160 17 46710944 intron variant G/A snv 0.28 0.30 0.700 1.000 1 2015 2015
dbSNP: rs2072590
rs2072590
4 0.851 0.120 2 176177905 non coding transcript exon variant A/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs3814113
rs3814113
5 0.827 0.200 9 16915023 upstream gene variant T/C snv 0.41 0.700 1.000 1 2015 2015
dbSNP: rs3820282
rs3820282
2 0.925 0.120 1 22141722 intron variant C/T snv 0.13 0.700 1.000 1 2015 2015
dbSNP: rs7230264
rs7230264
1 1.000 0.120 18 27347470 intron variant G/A snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs7651446
rs7651446
3 0.882 0.120 3 156689208 intron variant G/T snv 7.9E-02 0.700 1.000 1 2015 2015
dbSNP: rs8044477
rs8044477
1 1.000 0.120 16 58942687 intron variant A/G snv 0.53 0.700 1.000 1 2015 2015
dbSNP: rs9283636
rs9283636
1 1.000 0.120 3 166315136 intergenic variant G/A snv 0.46 0.700 1.000 1 2018 2018