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: rs104894229
rs104894229
23 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.020 1.000 2 2012 2020
dbSNP: rs104894230
rs104894230
42 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.020 1.000 2 2006 2015
dbSNP: rs12628
rs12628
10 0.776 0.160 11 534242 synonymous variant A/G snv 0.32 0.34 0.020 1.000 2 2013 2013
dbSNP: rs727503094
rs727503094
41 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 0.020 1.000 2 2006 2015
dbSNP: rs104894228
rs104894228
22 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs112690925
rs112690925
2 11 535098 intron variant T/G snv 0.25 0.010 1.000 1 2016 2016
dbSNP: rs766801436
rs766801436
2 11 533505 missense variant A/G;T snv 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs7939028
rs7939028
2 11 536856 non coding transcript exon variant G/C snv 0.25 0.010 1.000 1 2016 2016