Source: BEFREE ×
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: rs28362491
rs28362491
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.020 1.000 2 2016 2018
dbSNP: rs121913566
rs121913566
2 0.925 0.080 18 60372165 missense variant T/C snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs1322837244
rs1322837244
2 0.925 0.080 19 45698622 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.010 1.000 1 2001 2001
dbSNP: rs1805097
rs1805097
21 0.689 0.360 13 109782884 missense variant C/G;T snv 0.35 0.010 1.000 1 2003 2003
dbSNP: rs1805192
rs1805192
117 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2012 2012
dbSNP: rs199951903
rs199951903
CYTB ; ND6
2 0.925 0.120 MT 15497 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs35859249
rs35859249
6 0.807 0.200 4 37902468 missense variant C/A;T snv 4.0E-06; 9.7E-02 0.010 1.000 1 2008 2008
dbSNP: rs746906443
rs746906443
2 0.925 0.080 18 60371868 missense variant A/G snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs768916374
rs768916374
1 1.000 0.080 18 60371880 missense variant T/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs917346005
rs917346005
2 0.925 0.080 3 85912502 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs121913564
rs121913564
2 0.882 0.080 18 60371403 missense variant A/C snv 2.0E-05 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs757139012
rs757139012
3 0.882 0.080 6 100390522 missense variant T/C snv 8.0E-06; 4.0E-06 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs587777230
rs587777230
3 0.851 0.120 3 196707811 stop gained G/A snv 2.1E-05 0.020 0.500 2 2017 2018
dbSNP: rs750845408
rs750845408
2 0.925 0.080 5 96423317 missense variant T/C snv 4.5E-05 7.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs13447331
rs13447331
2 0.925 0.080 18 60371970 missense variant G/A snv 1.7E-04 7.7E-05 0.010 1.000 1 2014 2014
dbSNP: rs201408477
rs201408477
2 0.925 0.080 2 25161455 missense variant A/G snv 1.8E-04 1.6E-04 0.010 1.000 1 2015 2015
dbSNP: rs540467809
rs540467809
2 0.925 0.080 19 45698838 missense variant A/G snv 1.0E-03 2.2E-04 0.010 1.000 1 2015 2015
dbSNP: rs10487818
rs10487818
1 1.000 0.080 7 106269615 intron variant A/T snv 1.1E-02 0.010 1.000 1 2009 2009
dbSNP: rs2229616
rs2229616
18 0.732 0.200 18 60372043 missense variant C/T snv 1.6E-02 1.6E-02 0.010 1.000 1 2008 2008
dbSNP: rs5743708
rs5743708
97 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.010 1.000 1 2016 2016
dbSNP: rs1801282
rs1801282
127 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs4994
rs4994
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.020 1.000 2 1997 2007
dbSNP: rs3856806
rs3856806
41 0.637 0.440 3 12434058 synonymous variant C/T snv 0.13 0.11 0.010 1.000 1 2012 2012