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: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.040 1.000 4 2015 2019
dbSNP: rs266729
rs266729
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.040 1.000 4 2015 2020
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.030 0.667 3 2008 2016
dbSNP: rs2241767
rs2241767
10 0.763 0.440 3 186853407 intron variant A/G snv 0.10 0.010 1.000 1 2015 2015
dbSNP: rs3774261
rs3774261
10 0.776 0.320 3 186853770 splice region variant A/G snv 0.55 0.010 1.000 1 2015 2015
dbSNP: rs72563732
rs72563732
3 0.882 0.040 3 186854563 synonymous variant C/T snv 6.4E-05 2.6E-04 0.010 1.000 1 2016 2016
dbSNP: rs822393
rs822393
3 0.882 0.160 3 186848537 intron variant C/T snv 0.30 0.010 1.000 1 2016 2016