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
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.800 1.000 10 2010 2019
dbSNP: rs7412
rs7412
47 0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02 0.800 1.000 9 2012 2019
dbSNP: rs964184
rs964184
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.800 1.000 9 2010 2019
dbSNP: rs12740374
rs12740374
16 0.851 0.040 1 109274968 3 prime UTR variant G/T snv 0.22 0.800 1.000 8 2012 2019
dbSNP: rs12916
rs12916
12 0.807 0.240 5 75360714 3 prime UTR variant T/C;G snv 0.37 0.800 1.000 8 2010 2019
dbSNP: rs2954029
rs2954029
14 0.807 0.160 8 125478730 intron variant A/T snv 0.42 0.800 1.000 8 2010 2019
dbSNP: rs3764261
rs3764261
26 0.732 0.280 16 56959412 upstream gene variant C/A snv 0.31 0.800 1.000 8 2010 2019
dbSNP: rs4420638
rs4420638
43 0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18 0.800 1.000 8 2009 2018
dbSNP: rs646776
rs646776
25 0.752 0.240 1 109275908 downstream gene variant C/T snv 0.74 0.800 1.000 8 2009 2019
dbSNP: rs629301
rs629301
22 0.851 0.120 1 109275684 3 prime UTR variant G/T snv 0.74 0.800 1.000 7 2010 2019
dbSNP: rs6511720
rs6511720
15 0.790 0.120 19 11091630 intron variant G/T snv 0.12 0.800 1.000 7 2010 2019
dbSNP: rs10401969
rs10401969
25 0.776 0.240 19 19296909 intron variant T/C snv 0.10 0.800 1.000 6 2010 2018
dbSNP: rs1367117
rs1367117
8 1.000 0.080 2 21041028 missense variant G/A snv 0.26 0.24 0.800 1.000 6 2010 2019
dbSNP: rs2000999
rs2000999
7 1.000 0.080 16 72074194 intron variant G/A snv 0.16 0.800 1.000 6 2010 2018
dbSNP: rs562338
rs562338
21 0.807 0.160 2 21065449 intergenic variant A/G snv 0.69 0.800 1.000 6 2012 2019
dbSNP: rs9987289
rs9987289
10 1.000 0.040 8 9325848 non coding transcript exon variant A/G snv 0.87 0.800 1.000 6 2010 2019
dbSNP: rs11591147
rs11591147
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.800 1.000 5 2012 2019
dbSNP: rs12670798
rs12670798
5 1.000 0.040 7 21567734 intron variant T/C snv 0.26 0.800 1.000 5 2009 2018
dbSNP: rs1532085
rs1532085
13 0.882 0.080 15 58391167 intron variant A/G;T snv 0.800 1.000 5 2009 2018
dbSNP: rs1800961
rs1800961
21 0.851 0.160 20 44413724 missense variant C/T snv 3.1E-02 2.5E-02 0.800 1.000 5 2010 2018
dbSNP: rs1883025
rs1883025
13 0.807 0.120 9 104902020 intron variant C/T snv 0.28 0.800 1.000 5 2010 2018
dbSNP: rs2479409
rs2479409
4 1.000 0.040 1 55038977 upstream gene variant G/A snv 0.66 0.800 1.000 5 2010 2018
dbSNP: rs4299376
rs4299376
11 0.851 0.120 2 43845437 intron variant G/C;T snv 0.800 1.000 5 2010 2019
dbSNP: rs579459
rs579459
28 0.752 0.320 9 133278724 upstream gene variant C/T snv 0.81 0.800 1.000 5 2013 2019
dbSNP: rs599839
rs599839
27 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 0.800 1.000 5 2012 2019