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: rs12916
rs12916
12 0.807 0.240 5 75360714 3 prime UTR variant T/C;G snv 0.37 0.800 1.000 10 2010 2019
dbSNP: rs3846663
rs3846663
7 0.882 0.120 5 75359901 intron variant C/T snv 0.35 0.800 1.000 3 2009 2019
dbSNP: rs200174418
rs200174418
2 5 75449704 intron variant GG/- del 0.700 1.000 1 2019 2019
dbSNP: rs3804231
rs3804231
3 5 75400954 non coding transcript exon variant G/A snv 0.12 0.700 1.000 1 2012 2012
dbSNP: rs4385188
rs4385188
4 5 75438537 intron variant A/G snv 0.33 0.700 1.000 1 2012 2012
dbSNP: rs4604177
rs4604177
2 5 75513055 intron variant C/T snv 0.55 0.700 1.000 1 2017 2017
dbSNP: rs4704220
rs4704220
5 5 75461731 intron variant G/A snv 0.55 0.700 1.000 1 2012 2012
dbSNP: rs6453133
rs6453133
3 5 75396951 intron variant A/G;T snv 0.700 1.000 1 2012 2012