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: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2019 2019
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: rs363050
rs363050
8 0.790 0.240 20 10253609 intron variant G/A snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs4717806
rs4717806
9 0.776 0.200 7 73702147 intron variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 0.750 4 2002 2018
dbSNP: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.020 1.000 2 2017 2018
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: rs4147929
rs4147929
3 0.882 0.120 19 1063444 intron variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs699947
rs699947
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.010 1.000 1 2018 2018
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: 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: 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: rs2375981
rs2375981
2 1.000 0.040 9 2692583 regulatory region variant C/G;T snv 0.010 1.000 1 2017 2017
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: rs4782371
rs4782371
3 1.000 0.040 16 88502423 intron variant T/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs4988235
rs4988235
19 0.752 0.400 2 135851076 intron variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs6834314
rs6834314
10 0.807 0.160 4 87292656 intergenic variant A/G snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs6921438
rs6921438
10 0.776 0.360 6 43957870 intergenic variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs6993770
rs6993770
9 0.925 0.080 8 105569300 intron variant A/T snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs7043199
rs7043199
2 1.000 0.040 9 2621145 intron variant T/A snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs753152
rs753152
6 0.882 0.160 17 42761487 intron variant T/G snv 0.12 0.010 < 0.001 1 2017 2017
dbSNP: rs7903146
rs7903146
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.010 1.000 1 2017 2017