Source: ALL
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: rs112846137
rs112846137
4 0.851 0.160 3 160595133 intergenic variant G/T snv 5.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs114042950
rs114042950
1 1.000 0.080 6 32699098 intergenic variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs114388793
rs114388793
1 1.000 0.080 6 32699566 intergenic variant A/T snv 0.700 1.000 1 2015 2015
dbSNP: rs193107685
rs193107685
4 0.851 0.160 7 74123572 downstream gene variant T/C snv 1.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs2431098
rs2431098
5 0.827 0.240 5 160460329 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2736337
rs2736337
5 0.827 0.240 8 11484371 upstream gene variant T/C snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs2736340
rs2736340
22 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 0.010 1.000 1 2016 2016
dbSNP: rs3129843
rs3129843
5 0.827 0.160 6 32427949 intergenic variant A/G snv 6.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs35929052
rs35929052
5 0.827 0.160 16 85960878 downstream gene variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs58721818
rs58721818
4 0.851 0.160 6 137922602 regulatory region variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs744600
rs744600
4 0.851 0.160 2 190700031 intron variant G/T snv 0.60 0.700 1.000 1 2019 2019
dbSNP: rs7929541
rs7929541
4 0.851 0.160 11 633689 upstream gene variant T/C snv 0.34 0.700 1.000 1 2019 2019
dbSNP: rs1815739
rs1815739
17 0.763 0.240 11 66560624 stop gained C/T snv 0.37 0.010 1.000 1 2012 2012
dbSNP: rs1217393
rs1217393
4 0.851 0.160 1 113891324 intron variant G/A snv 0.42 0.700 1.000 1 2019 2019
dbSNP: rs802791
rs802791
4 0.851 0.160 6 106121395 intron variant T/C snv 0.75 0.700 1.000 1 2019 2019
dbSNP: rs9267488
rs9267488
1 1.000 0.080 6 31546470 splice region variant A/G snv 8.1E-02 9.9E-02 0.700 1.000 1 2015 2015
dbSNP: rs114050967
rs114050967
1 1.000 0.080 6 31537703 intron variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs13101828
rs13101828
6 0.851 0.160 4 971932 intron variant A/G snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs6599390
rs6599390
1 1.000 0.080 4 962259 intron variant A/G snv 0.69 0.700 1.000 1 2016 2016
dbSNP: rs35677470
rs35677470
6 0.807 0.160 3 58197909 missense variant G/A;C snv 4.8E-02; 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs1565191262
rs1565191262
4 1.000 0.080 11 59125559 frameshift variant T/- del 0.700 0
dbSNP: rs114012716
rs114012716
1 1.000 0.080 6 31466589 non coding transcript exon variant G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs115146037
rs115146037
1 1.000 0.080 6 31466554 non coding transcript exon variant A/T snv 0.700 1.000 1 2015 2015
dbSNP: rs115902351
rs115902351
1 1.000 0.080 6 31466844 non coding transcript exon variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs116088953
rs116088953
1 1.000 0.080 6 31475005 intron variant G/A snv 0.700 1.000 1 2015 2015