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: rs14403
rs14403
1 1.000 0.040 1 243500591 3 prime UTR variant C/T snv 0.17 0.800 1.000 3 2013 2019
dbSNP: rs1702294
rs1702294
1 1.000 0.040 1 98036428 intron variant T/A;C snv 0.700 1.000 3 2014 2019
dbSNP: rs2180335
rs2180335
1 1.000 0.040 1 66320247 intron variant A/G snv 0.47 0.030 1.000 3 2008 2016
dbSNP: rs2275163
rs2275163
KMO
1 1.000 0.040 1 241566754 intron variant C/T snv 0.28 0.030 0.667 3 2006 2014
dbSNP: rs2660304
rs2660304
2 0.925 0.120 1 98046571 non coding transcript exon variant G/T snv 0.83 0.710 1.000 3 2015 2018
dbSNP: rs2970610
rs2970610
1 1.000 0.040 1 43631859 intergenic variant T/C snv 0.53 0.700 1.000 3 2017 2019
dbSNP: rs35998080
rs35998080
2 1.000 0.040 1 72812932 intron variant G/T snv 0.37 0.700 1.000 3 2015 2019
dbSNP: rs7529073
rs7529073
1 1.000 0.040 1 213974546 intron variant T/A;C snv 0.700 1.000 3 2015 2019
dbSNP: rs1040716
rs1040716
1 1.000 0.040 1 66311907 intron variant A/T snv 0.37 0.020 1.000 2 2015 2016
dbSNP: rs10890032
rs10890032
1 1.000 0.040 1 73323641 intron variant T/A;C snv 0.700 1.000 2 2015 2019
dbSNP: rs1198589
rs1198589
1 1.000 0.040 1 98084855 intergenic variant T/C snv 0.85 0.700 1.000 2 2017 2019
dbSNP: rs12129037
rs12129037
1 1.000 0.040 1 150519638 downstream gene variant T/C;G snv 0.700 1.000 2 2017 2019
dbSNP: rs12138061
rs12138061
1 1.000 0.040 1 50106424 intron variant C/A snv 0.22; 3.8E-05 0.18 0.700 1.000 2 2017 2019
dbSNP: rs12742393
rs12742393
2 0.925 0.120 1 162254796 intron variant A/C;T snv 0.020 1.000 2 2009 2018
dbSNP: rs1538979
rs1538979
3 0.882 0.160 1 231761122 intron variant C/T snv 0.19 0.020 1.000 2 2009 2011
dbSNP: rs172531
rs172531
1 1.000 0.040 1 8435530 intron variant A/G snv 0.31 0.700 1.000 2 2017 2019
dbSNP: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.020 0.500 2 2010 2017
dbSNP: rs2015244
rs2015244
2 1.000 0.040 1 29956096 intergenic variant A/T snv 0.54 0.700 1.000 2 2019 2019
dbSNP: rs2271933
rs2271933
9 0.807 0.080 1 31626924 missense variant A/G snv 0.56 0.50 0.020 1.000 2 2005 2007
dbSNP: rs2501432
rs2501432
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.020 1.000 2 2010 2013
dbSNP: rs301797
rs301797
1 1.000 0.040 1 8427263 intron variant C/A snv 0.30 0.700 1.000 2 2015 2019
dbSNP: rs35978510
rs35978510
1 1.000 0.040 1 243612815 non coding transcript exon variant T/A;C snv 0.700 1.000 2 2017 2019
dbSNP: rs3737597
rs3737597
2 0.925 0.120 1 232037092 3 prime UTR variant G/A snv 3.1E-02 0.020 0.500 2 2015 2018
dbSNP: rs4347184
rs4347184
1 1.000 0.040 1 65848311 intron variant G/T snv 0.53 0.700 1.000 2 2017 2019
dbSNP: rs4650608
rs4650608
7 0.851 0.040 1 78772330 intergenic variant T/C snv 0.29 0.700 1.000 2 2013 2014