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: rs137853305
rs137853305
7 0.851 0.120 9 35685529 missense variant G/A snv 0.030 1.000 3 2007 2010
dbSNP: rs118192170
rs118192170
6 0.882 0.120 19 38584989 missense variant T/A;C snv 0.020 1.000 2 2001 2002
dbSNP: rs121912443
rs121912443
15 0.732 0.160 21 31663857 missense variant A/G snv 0.020 1.000 2 1996 2007
dbSNP: rs80356624
rs80356624
16 0.752 0.240 11 17387490 missense variant C/A;T snv 0.020 1.000 2 2005 2006
dbSNP: rs104894369
rs104894369
10 0.807 0.080 12 110914287 missense variant C/A;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs113994099
rs113994099
10 0.827 0.240 15 89320883 missense variant T/C snv 0.010 1.000 1 2007 2007
dbSNP: rs121434589
rs121434589
8 0.851 0.200 17 10535137 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs121908211
rs121908211
5 0.882 0.080 19 13371744 missense variant C/T snv 0.010 < 0.001 1 2005 2005
dbSNP: rs121913003
rs121913003
DES
6 0.882 0.200 2 219421532 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs121918075
rs121918075
TTR
15 0.752 0.280 18 31598632 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs1373863123
rs1373863123
4 1.000 0.080 7 5529540 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs137853306
rs137853306
6 0.882 0.080 9 35689265 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs151344517
rs151344517
31 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
dbSNP: rs1562846694
rs1562846694
32 0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 0.700 1.000 1 2019 2019
dbSNP: rs199474714
rs199474714
4 0.925 0.080 1 154173113 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs397514677
rs397514677
6 0.851 0.400 11 4023928 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs57983345
rs57983345
6 0.851 0.160 1 156115034 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs61672878
rs61672878
11 0.776 0.200 1 156136094 missense variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs746673818
rs746673818
2 17 42562625 start lost G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs767910122
rs767910122
17 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs794728228
rs794728228
4 0.925 0.160 15 48468064 stop gained G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs794728448
rs794728448
17 0.724 0.280 7 150948445 frameshift variant CT/G delins 0.010 1.000 1 2017 2017
dbSNP: rs80338957
rs80338957
11 0.776 0.160 17 63957427 missense variant G/A snv 0.010 1.000 1 1994 1994
dbSNP: rs80356616
rs80356616
19 0.732 0.360 11 17387917 missense variant C/T snv 0.010 1.000 1 2006 2006