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: rs1416532705
rs1416532705
3 0.882 0.080 17 39709435 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs17879961
rs17879961
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2012 2012
dbSNP: rs3104746
rs3104746
7 0.790 0.120 16 52567188 intron variant T/A snv 8.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2015 2015
dbSNP: rs6099128
rs6099128
2 0.925 20 56390288 intron variant T/G snv 0.13 0.010 1.000 1 2015 2015
dbSNP: rs2303425
rs2303425
8 0.790 0.120 2 47403074 5 prime UTR variant T/C snv 0.10 0.010 1.000 1 2017 2017
dbSNP: rs35054928
rs35054928
4 0.851 0.080 10 121580918 intron variant C/- delins 0.010 1.000 1 2017 2017
dbSNP: rs4593472
rs4593472
3 0.882 0.080 7 130982362 intron variant C/T snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs4415084
rs4415084
6 0.827 0.080 5 44662413 upstream gene variant C/T snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs9485372
rs9485372
6 0.807 0.120 6 149287738 intron variant G/A snv 0.20 0.010 1.000 1 2018 2018
dbSNP: rs4442975
rs4442975
7 0.827 0.120 2 217056046 intergenic variant G/T snv 0.47 0.010 1.000 1 2019 2019