Source: ALL
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: rs104894718
rs104894718
8 0.790 0.160 19 35033654 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 17 1998 2016
dbSNP: rs121918054
rs121918054
8 0.807 0.240 15 89323460 missense variant C/G;T snv 6.9E-04; 4.0E-06 0.700 1.000 9 2006 2015
dbSNP: rs28931591
rs28931591
4 0.882 0.160 20 63350560 missense variant G/A snv 0.700 1.000 9 1999 2013
dbSNP: rs368435864
rs368435864
2 1.000 0.080 15 89318736 missense variant C/A;T snv 1.2E-05; 2.0E-05 0.700 1.000 9 2006 2013
dbSNP: rs74315390
rs74315390
8 0.790 0.120 20 63439609 missense variant C/G;T snv 0.710 1.000 9 1993 2016
dbSNP: rs28934906
rs28934906
46 0.716 0.320 X 154031355 missense variant G/A snv 0.710 1.000 7 2000 2019
dbSNP: rs118192226
rs118192226
3 0.925 0.040 20 63415086 stop gained G/A;T snv 4.2E-06 0.700 1.000 6 1984 2015
dbSNP: rs1568940442
rs1568940442
1 20 63444765 missense variant G/A snv 0.700 1.000 5 2007 2015
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.040 0.500 4 2006 2014
dbSNP: rs121908225
rs121908225
12 0.790 0.120 19 13365448 missense variant G/A snv 0.040 1.000 4 2008 2019
dbSNP: rs121918622
rs121918622
9 0.790 0.080 2 165992332 missense variant C/A;T snv 4.0E-06 0.040 1.000 4 2011 2019
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: rs1566446604
rs1566446604
6 0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins 0.700 1.000 4 2012 2016
dbSNP: rs750428882
rs750428882
2 1.000 0.120 11 6616375 missense variant G/A;C snv 4.0E-06 0.700 1.000 4 2009 2013
dbSNP: rs113994198
rs113994198
4 0.925 0.080 17 2666053 frameshift variant A/-;AA delins 0.700 1.000 3 1999 2003
dbSNP: rs1555850151
rs1555850151
2 1.000 20 63406659 frameshift variant -/GCCCA delins 0.700 1.000 3 2003 2014
dbSNP: rs1564367605
rs1564367605
1 9 135768856 missense variant G/A snv 0.700 1.000 3 2015 2017
dbSNP: rs397507476
rs397507476
4 0.882 0.200 7 140778011 missense variant T/A;G snv 0.700 1.000 3 2006 2009
dbSNP: rs397514737
rs397514737
4 0.882 0.080 5 162149153 missense variant G/A snv 0.700 1.000 3 2013 2015
dbSNP: rs587776973
rs587776973
3 0.925 0.040 22 31815209 stop gained C/G;T snv 4.0E-06 0.700 1.000 3 2013 2015
dbSNP: rs776095655
rs776095655
8 0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06 0.700 1.000 3 2011 2015
dbSNP: rs796052653
rs796052653
3 0.925 20 63413526 missense variant C/A;T snv 0.700 1.000 3 2013 2015
dbSNP: rs864309661
rs864309661
4 1.000 0.080 X 49077715 inframe deletion CCA/- delins 0.700 1.000 3 2012 2013
dbSNP: rs1057524157
rs1057524157
19 0.776 0.200 11 686962 missense variant A/C;T snv 0.700 1.000 2 2017 2017
dbSNP: rs1064795104
rs1064795104
17 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014