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: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1801260
rs1801260
28 0.695 0.280 4 55435202 3 prime UTR variant A/G snv 0.25 0.010 1.000 1 2018 2018
dbSNP: rs3027178
rs3027178
3 0.882 0.040 17 8149767 synonymous variant T/G snv 0.30 0.29 0.010 1.000 1 2018 2018
dbSNP: rs746284240
rs746284240
11 0.763 0.240 12 68809243 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs7602358
rs7602358
6 0.827 0.080 2 238147187 intron variant G/T snv 0.83 0.010 1.000 1 2018 2018
dbSNP: rs934945
rs934945
10 0.827 0.200 2 238246412 missense variant C/T snv 0.21 0.15 0.010 1.000 1 2018 2018