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: rs1322648460
rs1322648460
9 0.776 0.320 11 35139332 frameshift variant G/- delins 0.020 1.000 2 2011 2013
dbSNP: rs187115
rs187115
22 0.695 0.320 11 35154612 intron variant T/C snv 0.37 0.020 1.000 2 2015 2019
dbSNP: rs353639
rs353639
5 0.851 0.120 11 35162817 intron variant T/G snv 0.32 0.010 1.000 1 2013 2013