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: rs16906252
rs16906252
19 0.732 0.200 10 129467281 synonymous variant C/T snv 5.5E-02 5.1E-02 0.010 1.000 1 2020 2020
dbSNP: rs2189517
rs2189517
3 0.882 0.080 14 68536271 intron variant A/G snv 0.49 0.010 1.000 1 2020 2020
dbSNP: rs2585428
rs2585428
11 0.763 0.200 20 54170358 intron variant C/T snv 0.46 0.010 1.000 1 2020 2020
dbSNP: rs4809960
rs4809960
8 0.807 0.240 20 54169534 intron variant T/C snv 0.20 0.010 1.000 1 2020 2020
dbSNP: rs6022999
rs6022999
9 0.790 0.160 20 54171474 intron variant A/G snv 0.36 0.010 1.000 1 2020 2020
dbSNP: rs6068816
rs6068816
12 0.752 0.200 20 54164552 synonymous variant C/T snv 0.12 8.9E-02 0.010 1.000 1 2020 2020
dbSNP: rs1078643
rs1078643
10 0.776 0.080 17 10803924 missense variant G/A;C snv 0.700 1.000 3 2019 2019
dbSNP: rs16969681
rs16969681
10 0.776 0.080 15 32700910 downstream gene variant C/T snv 0.11 0.700 1.000 3 2019 2019
dbSNP: rs2735940
rs2735940
25 0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49 0.700 1.000 3 2019 2019
dbSNP: rs4813802
rs4813802
11 0.776 0.080 20 6718948 regulatory region variant T/G snv 0.28 0.700 1.000 3 2019 2019
dbSNP: rs16878812
rs16878812
10 0.776 0.080 6 35601785 intron variant A/G snv 0.15 0.700 1.000 2 2019 2019
dbSNP: rs17094983
rs17094983
10 0.776 0.080 14 58722643 intron variant G/A snv 0.12 0.700 1.000 2 2019 2019
dbSNP: rs1741640
rs1741640
10 0.776 0.080 20 62357358 intron variant T/C snv 0.66 0.700 1.000 2 2019 2019
dbSNP: rs17816465
rs17816465
10 0.776 0.080 15 32864185 intron variant G/A snv 0.15 0.700 1.000 2 2019 2019
dbSNP: rs1810502
rs1810502
9 0.790 0.080 20 50440951 intergenic variant C/T snv 0.49 0.700 1.000 2 2019 2019
dbSNP: rs3087967
rs3087967
10 0.776 0.080 11 111286111 3 prime UTR variant T/C snv 0.72 0.700 1.000 2 2019 2019
dbSNP: rs35107139
rs35107139
11 0.776 0.080 14 53952388 intron variant A/C;G;T snv 0.700 1.000 2 2019 2019
dbSNP: rs35470271
rs35470271
10 0.776 0.080 3 40873748 intron variant A/G snv 0.13 0.700 1.000 2 2019 2019
dbSNP: rs45597035
rs45597035
10 0.776 0.080 13 73075014 intron variant A/G;T snv 0.700 1.000 2 2019 2019
dbSNP: rs597808
rs597808
19 0.742 0.200 12 111535554 intron variant A/G snv 0.67 0.700 1.000 2 2019 2019
dbSNP: rs62404966
rs62404966
10 0.776 0.080 6 55847326 intron variant C/T snv 0.18 0.700 1.000 2 2019 2019
dbSNP: rs75954926
rs75954926
10 0.776 0.080 17 83104098 upstream gene variant A/G snv 0.57 0.700 1.000 2 2019 2019
dbSNP: rs10049390
rs10049390
10 0.776 0.080 3 133982275 intron variant G/A snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs10152518
rs10152518
9 0.790 0.080 15 67884824 intergenic variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1057519725
rs1057519725
6 0.851 0.320 12 25225627 missense variant G/A snv 7.0E-06 0.010 1.000 1 2019 2019