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: rs4678680
rs4678680
1 1.000 0.080 3 32978543 intergenic variant G/T snv 0.73 0.810 1.000 3 2010 2016
dbSNP: rs10773771
rs10773771
1 1.000 0.080 12 130371771 3 prime UTR variant C/T snv 0.50 0.020 0.500 2 2013 2017
dbSNP: rs1554040964
rs1554040964
1 1.000 0.080 5 1279417 missense variant C/G snv 0.700 1.000 2 2013 2017
dbSNP: rs17006625
rs17006625
3 0.925 0.080 3 20119604 missense variant A/C;G snv 4.0E-06; 3.3E-02 0.020 1.000 2 2012 2016
dbSNP: rs1713449
rs1713449
2 1.000 0.080 14 20373548 missense variant C/T snv 0.26 0.29 0.020 0.500 2 2014 2016
dbSNP: rs2293035
rs2293035
3 0.882 0.080 19 43546923 synonymous variant G/A snv 1.6E-04 1.5E-04 0.020 1.000 2 2013 2019
dbSNP: rs2640908
rs2640908
1 1.000 0.080 1 7829881 synonymous variant C/T snv 0.22 0.22 0.020 1.000 2 2012 2014
dbSNP: rs3096380
rs3096380
1 1.000 0.080 16 71285743 missense variant G/A;C snv 0.94 0.700 1.000 2 2019 2019
dbSNP: rs34675408
rs34675408
1 1.000 0.080 5 38883969 missense variant T/G snv 8.3E-02 9.7E-02 0.700 1.000 2 2019 2019
dbSNP: rs3803012
rs3803012
RAN
1 1.000 0.080 12 130876170 3 prime UTR variant A/C;G snv 0.020 0.500 2 2013 2017
dbSNP: rs4147581
rs4147581
1 1.000 0.080 11 67584114 intron variant C/G snv 0.49 0.39 0.020 1.000 2 2015 2016
dbSNP: rs584368
rs584368
1 1.000 0.080 11 88232053 regulatory region variant C/T snv 0.70 0.700 1.000 2 2019 2019
dbSNP: rs6025211
rs6025211
1 1.000 0.080 20 56864307 intergenic variant C/G;T snv 0.020 1.000 2 2018 2020
dbSNP: rs6078460
rs6078460
1 1.000 0.080 20 12116249 intergenic variant A/C;G;T snv 0.700 1.000 2 2019 2019
dbSNP: rs6940552
rs6940552
3 1.000 0.080 6 30044563 intron variant G/A snv 0.12 0.020 1.000 2 2015 2016
dbSNP: rs913493
rs913493
1 1.000 0.080 13 67148073 intron variant A/G snv 0.20 0.700 1.000 2 2019 2019
dbSNP: rs9200
rs9200
2 1.000 0.080 5 41142504 3 prime UTR variant C/A;T snv 0.020 1.000 2 2016 2017
dbSNP: rs10052999
rs10052999
C6
1 1.000 0.080 5 41165642 intron variant C/T snv 7.5E-02 0.010 1.000 1 2017 2017
dbSNP: rs1012335
rs1012335
2 0.925 0.080 21 33341701 intron variant G/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1014509103
rs1014509103
2 1.000 0.080 1 161194005 missense variant G/A snv 4.0E-06 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs10485505
rs10485505
3 1.000 0.080 20 34437762 intron variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1049112
rs1049112
1 1.000 0.080 12 10930757 missense variant A/G;T snv 0.11; 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs10519613
rs10519613
3 1.000 0.080 4 141732931 3 prime UTR variant C/A snv 0.10 0.010 1.000 1 2017 2017
dbSNP: rs1053096
rs1053096
1 1.000 0.080 2 100996153 3 prime UTR variant T/C snv 0.61 0.010 1.000 1 2014 2014
dbSNP: rs1053133
rs1053133
2 1.000 0.080 6 41932887 3 prime UTR variant C/A;T snv 0.010 1.000 1 2012 2012