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: rs1260326
rs1260326
25 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.800 1.000 4 2010 2019
dbSNP: rs1532085
rs1532085
9 0.882 0.080 15 58391167 intron variant A/G;T snv 0.800 1.000 4 2009 2018
dbSNP: rs2954029
rs2954029
7 0.807 0.160 8 125478730 intron variant A/T snv 0.42 0.800 1.000 4 2010 2019
dbSNP: rs3764261
rs3764261
11 0.732 0.280 16 56959412 upstream gene variant C/A snv 0.31 0.800 1.000 4 2010 2019
dbSNP: rs4420638
rs4420638
15 0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18 0.800 1.000 4 2009 2018
dbSNP: rs6511720
rs6511720
10 0.790 0.120 19 11091630 intron variant G/T snv 0.12 0.800 1.000 4 2010 2019
dbSNP: rs10401969
rs10401969
6 0.776 0.240 19 19296909 intron variant T/C snv 0.10 0.800 1.000 3 2010 2018
dbSNP: rs10889353
rs10889353
3 1 62652525 intron variant A/C;T snv 0.800 1.000 3 2009 2019
dbSNP: rs12916
rs12916
3 0.807 0.240 5 75360714 3 prime UTR variant T/C;G snv 0.37 0.800 1.000 3 2010 2019
dbSNP: rs1367117
rs1367117
3 1.000 0.080 2 21041028 missense variant G/A snv 0.26 0.24 0.800 1.000 3 2010 2019
dbSNP: rs1800961
rs1800961
5 0.851 0.160 20 44413724 missense variant C/T snv 3.1E-02 2.5E-02 0.800 1.000 3 2010 2018
dbSNP: rs1883025
rs1883025
7 0.807 0.120 9 104902020 intron variant C/T snv 0.28 0.800 1.000 3 2010 2018
dbSNP: rs2000999
rs2000999
4 1.000 0.080 16 72074194 intron variant G/A snv 0.16 0.800 1.000 3 2010 2018
dbSNP: rs2075650
rs2075650
20 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.800 1.000 3 2009 2013
dbSNP: rs2479409
rs2479409
3 1.000 0.040 1 55038977 upstream gene variant G/A snv 0.66 0.800 1.000 3 2010 2018
dbSNP: rs4299376
rs4299376
6 0.851 0.120 2 43845437 intron variant G/C;T snv 0.800 1.000 3 2010 2019
dbSNP: rs629301
rs629301
8 0.851 0.120 1 109275684 3 prime UTR variant G/T snv 0.74 0.800 1.000 3 2010 2019
dbSNP: rs646776
rs646776
10 0.752 0.240 1 109275908 downstream gene variant C/T snv 0.74 0.800 1.000 3 2009 2019
dbSNP: rs964184
rs964184
12 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.800 1.000 3 2010 2019
dbSNP: rs10128711
rs10128711
1 11 18611437 intron variant T/C snv 0.64 0.55 0.800 1.000 2 2010 2018
dbSNP: rs11065987
rs11065987
12 0.807 0.280 12 111634620 intergenic variant A/G snv 0.29 0.800 1.000 2 2010 2018
dbSNP: rs11136341
rs11136341
3 8 143969375 intron variant A/G snv 0.40 0.800 1.000 2 2010 2018
dbSNP: rs11220462
rs11220462
3 11 126374057 intron variant G/A snv 0.12 0.800 1.000 2 2010 2018
dbSNP: rs11563251
rs11563251
5 2 233770738 3 prime UTR variant C/T snv 0.19 0.800 1.000 2 2012 2013
dbSNP: rs1169288
rs1169288
6 0.776 0.160 12 120978847 missense variant A/C;T snv 0.35 0.800 1.000 2 2010 2018