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: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
13 0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 0.700 1.000 4 1993 2018
dbSNP: rs863223953
rs863223953
10 0.776 0.240 12 32731362 missense variant C/T snv 0.700 1.000 2 2016 2016
dbSNP: rs1009298200
rs1009298200
34 0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 0.700 0
dbSNP: rs1010184002
rs1010184002
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1555452127
rs1555452127
34 0.742 0.400 16 5079078 missense variant T/C snv 0.700 0
dbSNP: rs35993949
rs35993949
9 0.882 0.040 8 67506804 missense variant G/C snv 1.5E-03 1.2E-03 0.700 0
dbSNP: rs369160589
rs369160589
35 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
dbSNP: rs61738009
rs61738009
11 0.827 0.080 8 67483807 stop gained C/A;T snv 4.0E-06; 2.0E-03 2.5E-03 0.700 0
dbSNP: rs61753219
rs61753219
64 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
dbSNP: rs119488099
rs119488099
3 0.925 0.120 10 93777592 missense variant C/T snv 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs211037
rs211037
14 0.742 0.240 5 162101274 synonymous variant C/T snv 0.28 0.31 0.010 1.000 1 2016 2016
dbSNP: rs3740066
rs3740066
20 0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34 0.010 1.000 1 2014 2014
dbSNP: rs535860
rs535860
2 1.000 0.080 11 117289162 3 prime UTR variant A/T snv 0.12 0.010 1.000 1 2018 2018
dbSNP: rs786204929
rs786204929
12 0.752 0.200 10 87933144 stop gained G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs878329
rs878329
4 0.882 0.120 17 5649930 intergenic variant G/C snv 0.44 0.010 1.000 1 2017 2017