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: rs1381537616
rs1381537616
4 0.851 0.040 7 27174132 missense variant C/T snv 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: rs144551722
rs144551722
4 0.851 0.040 X 43632629 intergenic variant G/A snv 0.13 0.010 1.000 1 2019 2019
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: rs149840192
rs149840192
7 0.807 0.080 7 55154129 missense variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs17296479
rs17296479
5 0.851 0.040 5 81411157 non coding transcript exon variant T/A snv 9.4E-02 0.010 1.000 1 2012 2012
dbSNP: rs1800734
rs1800734
30 0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 0.010 1.000 1 2014 2014
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: rs1801275
rs1801275
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.010 1.000 1 2007 2007
dbSNP: rs1801320
rs1801320
15 0.742 0.160 15 40695330 5 prime UTR variant G/C snv 0.12 0.010 1.000 1 2016 2016
dbSNP: rs1805015
rs1805015
22 0.683 0.520 16 27362859 missense variant T/C snv 0.16 0.22 0.010 1.000 1 2007 2007
dbSNP: rs1957106
rs1957106
4 0.851 0.040 14 35404564 synonymous variant G/A snv 0.28 0.25 0.010 1.000 1 2014 2014
dbSNP: rs1982073
rs1982073
32 0.649 0.640 19 41353016 missense variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs200187877
rs200187877
4 0.851 0.040 4 23795829 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs2010963
rs2010963
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2018 2018
dbSNP: rs2017309
rs2017309
4 0.851 0.040 22 28735438 intron variant T/A snv 0.23 0.010 1.000 1 2006 2006
dbSNP: rs2234248
rs2234248
5 0.827 0.040 6 41163980 upstream gene variant A/G snv 2.2E-03 0.010 1.000 1 2015 2015
dbSNP: rs2235544
rs2235544
14 0.742 0.240 1 53909897 intron variant C/A;T snv 0.53; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs2293157
rs2293157
9 0.763 0.120 17 42300657 intron variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs2297440
rs2297440
10 0.763 0.080 20 63680946 intron variant T/C snv 0.81 0.010 1.000 1 2011 2011
dbSNP: rs2440472
rs2440472
5 0.827 0.080 16 56402912 intron variant A/G snv 0.61 0.010 1.000 1 2018 2018
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: 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: rs28357681
rs28357681
CYTB ; ND6
4 0.851 0.040 MT 14798 missense variant T/C snv 0.010 1.000 1 2019 2019
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