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: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2015 2015
dbSNP: rs10741657
rs10741657
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2015 2015
dbSNP: rs10757278
rs10757278
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.010 1.000 1 2009 2009
dbSNP: rs10761741
rs10761741
4 1.000 0.040 10 63306426 intron variant G/T snv 0.38 0.010 1.000 1 2017 2017
dbSNP: rs10903323
rs10903323
8 0.807 0.160 8 10292057 intron variant A/G snv 0.15 0.010 1.000 1 2012 2012
dbSNP: rs11234027
rs11234027
5 0.882 0.080 11 71523061 intron variant G/A snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs114694170
rs114694170
5 1.000 0.040 5 88884379 non coding transcript exon variant T/C snv 3.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs1239681664
rs1239681664
15 0.716 0.320 9 104818690 synonymous variant A/G snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs12817819
rs12817819
3 0.882 0.040 12 89645549 intron variant C/T snv 9.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs17105278
rs17105278
2 0.925 0.080 14 68261762 intron variant T/C snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs1740073
rs1740073
2 1.000 0.040 6 43979661 regulatory region variant T/C snv 0.67 0.010 1.000 1 2017 2017
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2011 2011
dbSNP: rs1800796
rs1800796
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2019 2019
dbSNP: rs2010963
rs2010963
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2018 2018
dbSNP: rs2234693
rs2234693
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 < 0.001 1 2008 2008
dbSNP: rs2293489
rs2293489
2 0.925 0.120 7 73692949 non coding transcript exon variant C/T snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs2375981
rs2375981
2 1.000 0.040 9 2692583 regulatory region variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2383207
rs2383207
22 0.695 0.280 9 22115960 intron variant A/G snv 0.64 0.010 1.000 1 2009 2009
dbSNP: rs2639990
rs2639990
2 1.000 0.040 18 75203596 intron variant T/C snv 0.12 0.010 1.000 1 2017 2017
dbSNP: rs2735383
rs2735383
18 0.708 0.360 8 89935041 3 prime UTR variant C/G snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs281860391
rs281860391
2 0.925 0.080 6 31271690 stop gained C/T snv 0.010 < 0.001 1 2005 2005
dbSNP: rs28357984
rs28357984
COX1 ; ND2
6 0.851 0.160 MT 5178 missense variant C/A snv 0.010 1.000 1 2005 2005
dbSNP: rs2954029
rs2954029
14 0.807 0.160 8 125478730 intron variant A/T snv 0.42 0.010 1.000 1 2011 2011
dbSNP: rs363050
rs363050
8 0.790 0.240 20 10253609 intron variant G/A snv 0.57 0.010 1.000 1 2019 2019