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: rs13167280
rs13167280
1 1.000 0.080 5 1280362 intron variant G/A snv 0.13 0.11 0.700 1.000 1 2019 2019
dbSNP: rs7705526
rs7705526
15 0.776 0.240 5 1285859 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2736100
rs2736100
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.060 1.000 6 2009 2016
dbSNP: rs2736098
rs2736098
48 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.020 1.000 2 2013 2016
dbSNP: rs2853677
rs2853677
19 0.724 0.240 5 1287079 3 prime UTR variant G/A snv 0.63 0.020 1.000 2 2018 2019
dbSNP: rs2853669
rs2853669
35 0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs2853691
rs2853691
2 0.925 0.120 5 1252835 intron variant T/C snv 0.45 0.010 1.000 1 2018 2018