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: rs141310123
rs141310123
4 0.925 0.120 18 79411390 missense variant C/A;T snv 2.1E-04; 4.8E-06 0.700 1.000 1 2018 2018
dbSNP: rs549752
rs549752
3 18 79398225 intron variant A/G snv 0.40 0.700 1.000 1 2018 2018
dbSNP: rs56376587
rs56376587
2 18 79400235 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs71359461
rs71359461
2 18 79396103 5 prime UTR variant G/C snv 0.39 0.700 1.000 1 2017 2017
dbSNP: rs74183647
rs74183647
3 18 79396171 5 prime UTR variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs8091180
rs8091180
3 1.000 0.160 18 79404243 intron variant G/A snv 0.46 0.700 1.000 1 2016 2016