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: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2005 2008
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2005 2008
dbSNP: rs886039958
rs886039958
3 0.882 0.080 17 43093956 frameshift variant A/-;AA delins 0.020 1.000 2 2006 2007
dbSNP: rs1057519975
rs1057519975
34 0.649 0.480 17 7675209 missense variant A/C;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1064795860
rs1064795860
1 1.000 0.080 17 7675155 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs11075884
rs11075884
1 1.000 0.080 16 71321332 intergenic variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs11200014
rs11200014
19 0.695 0.280 10 121575416 intron variant G/A;T snv 0.34 0.010 1.000 1 2012 2012
dbSNP: rs1131691036
rs1131691036
8 0.851 0.080 17 7675207 frameshift variant GCA/CC delins 0.010 1.000 1 2014 2014
dbSNP: rs113211432
rs113211432
3 0.882 0.080 2 214767532 frameshift variant -/TG delins 0.010 1.000 1 2006 2006
dbSNP: rs1186364060
rs1186364060
1 1.000 0.080 1 91353084 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs1219648
rs1219648
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs12255372
rs12255372
28 0.667 0.480 10 113049143 intron variant G/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs1302297709
rs1302297709
3 0.882 0.080 17 58703319 missense variant A/G snv 0.010 < 0.001 1 2004 2004
dbSNP: rs13387042
rs13387042
16 0.732 0.280 2 217041109 intergenic variant A/G snv 0.44 0.010 1.000 1 2013 2013
dbSNP: rs17663555
rs17663555
3 1.000 0.080 5 73136209 intron variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2046210
rs2046210
21 0.708 0.280 6 151627231 intergenic variant G/A snv 0.41 0.010 1.000 1 2013 2013
dbSNP: rs2420946
rs2420946
4 0.851 0.160 10 121591810 intron variant T/C snv 0.56 0.010 1.000 1 2012 2012
dbSNP: rs28359178
rs28359178
CYTB ; ND5 ; ND6
3 0.882 0.280 MT 13708 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs2981582
rs2981582
21 0.695 0.360 10 121592803 intron variant A/G snv 0.58 0.010 1.000 1 2012 2012
dbSNP: rs3112612
rs3112612
3 0.882 0.080 16 52601252 intron variant G/A snv 0.44 0.010 1.000 1 2013 2013
dbSNP: rs386654966
rs386654966
3 0.882 0.080 2 214767531 missense variant CA/AG;TG mnv 0.010 1.000 1 2006 2006
dbSNP: rs397509062
rs397509062
1 1.000 0.080 17 43104223 missense variant A/G snv 0.010 1.000 1 2004 2004
dbSNP: rs566164
rs566164
2 1.000 0.080 6 109185258 intron variant A/G snv 0.73 0.010 1.000 1 2013 2013
dbSNP: rs61764370
rs61764370
29 0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 0.010 < 0.001 1 2012 2012
dbSNP: rs63750258
rs63750258
5 0.851 0.200 2 47800966 stop gained G/A;C;T snv 0.010 1.000 1 2005 2005