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: rs861539
rs861539
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.030 1.000 3 2012 2016
dbSNP: rs373584770
rs373584770
5 0.827 0.120 11 105030337 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1273593548
rs1273593548
19 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 0.020 0.500 2 2007 2017
dbSNP: rs3092993
rs3092993
5 0.827 0.040 11 108364388 intron variant C/A snv 0.11 0.010 1.000 1 2007 2007
dbSNP: rs374524467
rs374524467
5 0.827 0.040 4 110632961 missense variant A/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs498872
rs498872
10 0.776 0.240 11 118606652 5 prime UTR variant A/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs3856806
rs3856806
41 0.637 0.440 3 12434058 synonymous variant C/T snv 0.13 0.11 0.010 1.000 1 2017 2017
dbSNP: rs2736100
rs2736100
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.010 1.000 1 2011 2011
dbSNP: rs2736098
rs2736098
48 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.010 1.000 1 2011 2011
dbSNP: rs16906252
rs16906252
19 0.732 0.200 10 129467281 synonymous variant C/T snv 5.5E-02 5.1E-02 0.020 1.000 2 2013 2015
dbSNP: rs2853669
rs2853669
35 0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs4295627
rs4295627
11 0.763 0.200 8 129673211 intron variant T/G snv 0.17 0.010 1.000 1 2011 2011
dbSNP: rs1800925
rs1800925
37 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.070 1.000 7 2011 2019
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.070 1.000 7 2011 2019
dbSNP: rs28357681
rs28357681
CYTB ; ND6
4 0.851 0.040 MT 14798 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1320938886
rs1320938886
4 0.851 0.040 1 169376605 missense variant T/G snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs2904551
rs2904551
8 0.776 0.160 22 18918421 missense variant A/G snv 5.2E-03 2.8E-03 0.010 1.000 1 2018 2018
dbSNP: rs121913500
rs121913500
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.100 1.000 18 2011 2019
dbSNP: rs121913499
rs121913499
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs11554137
rs11554137
13 0.742 0.040 2 208248468 synonymous variant G/A snv 5.1E-02 6.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs1453633223
rs1453633223
6 0.807 0.080 9 21974503 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1444669684
rs1444669684
36 0.658 0.480 9 21994285 missense variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs4977756
rs4977756
24 0.683 0.440 9 22068653 intron variant G/A snv 0.64 0.010 1.000 1 2016 2016
dbSNP: rs1057519903
rs1057519903
28 0.683 0.080 1 226064434 missense variant A/T snv 0.030 1.000 3 2016 2017