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: rs13347
rs13347
12 0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv 0.030 0.667 3 2012 2018
dbSNP: rs187115
rs187115
22 0.695 0.320 11 35154612 intron variant T/C snv 0.37 0.010 1.000 1 2019 2019
dbSNP: rs353639
rs353639
5 0.851 0.120 11 35162817 intron variant T/G snv 0.32 0.010 < 0.001 1 2013 2013