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: rs63750157
rs63750157
1 1.000 0.080 2 47804943 missense variant T/C snv 0.700 1.000 12 1999 2012
dbSNP: rs63750287
rs63750287
1 1.000 0.080 2 47801045 missense variant C/A;G snv 8.4E-06 0.700 1.000 12 1999 2012
dbSNP: rs63750304
rs63750304
1 1.000 0.080 2 47800158 missense variant C/G snv 1.6E-05 7.0E-06 0.700 1.000 12 1999 2012
dbSNP: rs63750358
rs63750358
1 1.000 0.080 2 47800037 missense variant G/C snv 0.700 1.000 12 1999 2012
dbSNP: rs63750442
rs63750442
1 1.000 0.080 2 47803546 missense variant C/G;T snv 7.6E-05; 4.0E-05 0.700 1.000 12 1999 2012
dbSNP: rs63750637
rs63750637
1 1.000 0.080 2 47800343 missense variant C/G;T snv 0.700 1.000 12 1999 2012
dbSNP: rs63750725
rs63750725
1 1.000 0.080 2 47800298 missense variant G/A snv 1.6E-05 2.1E-05 0.700 1.000 12 1999 2012
dbSNP: rs137853148
rs137853148
1 1.000 0.080 8 17589479 missense variant C/T snv 0.800 1.000 11 1995 2015
dbSNP: rs63750268
rs63750268
1 1.000 0.080 3 37020399 missense variant G/A snv 4.4E-05 2.1E-05 0.700 1.000 11 1996 2008
dbSNP: rs63750498
rs63750498
1 1.000 0.080 3 37028789 missense variant G/A;T snv 2.4E-05 0.700 1.000 11 1996 2008
dbSNP: rs63750650
rs63750650
1 1.000 0.080 3 37017518 missense variant A/G snv 2.5E-04 1.3E-04 0.700 1.000 11 1996 2008
dbSNP: rs63750718
rs63750718
1 1.000 0.080 3 37047589 missense variant A/G snv 0.700 1.000 11 1996 2008
dbSNP: rs180177032
rs180177032
1 1.000 0.080 7 140781623 missense variant C/A snv 0.800 1.000 10 2006 2015
dbSNP: rs180177033
rs180177033
1 1.000 0.080 7 140781620 missense variant A/C snv 0.800 1.000 10 2006 2015
dbSNP: rs587779973
rs587779973
1 1.000 0.080 2 47410334 missense variant G/A snv 1.6E-05 3.5E-05 0.700 1.000 4 1998 2005
dbSNP: rs63749907
rs63749907
1 1.000 0.080 2 47403229 missense variant G/A;T snv 1.4E-05 0.700 1.000 4 1998 2005
dbSNP: rs11118838
rs11118838
1 1.000 0.080 1 221724004 intron variant A/C;T snv 0.020 1.000 2 2014 2015
dbSNP: rs11632715
rs11632715
1 1.000 0.080 15 32712046 intergenic variant G/A snv 0.47 0.020 1.000 2 2011 2014
dbSNP: rs1202168
rs1202168
1 1.000 0.080 7 87566646 intron variant G/A snv 0.39 0.020 1.000 2 2011 2012
dbSNP: rs17716310
rs17716310
1 1.000 0.080 5 135141069 intron variant C/A;T snv 0.020 1.000 2 2015 2016
dbSNP: rs1799832
rs1799832
1 1.000 0.080 7 2250887 synonymous variant C/T snv 0.18 0.16 0.020 1.000 2 2011 2018
dbSNP: rs1957636
rs1957636
1 1.000 0.080 14 54093300 regulatory region variant T/C snv 0.48 0.020 1.000 2 2011 2017
dbSNP: rs267606884
rs267606884
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1 1.000 0.080 MT 7275 missense variant T/C snv 0.800 1.000 2 2006 2009
dbSNP: rs281865417
rs281865417
1 1.000 0.080 MT 6277 missense variant G/A snv 0.800 1.000 2 2006 2009
dbSNP: rs58920878
rs58920878
1 1.000 0.080 18 48923195 intron variant C/A;G;T snv 0.020 1.000 2 2014 2016