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: rs121909218
rs121909218
25 0.672 0.360 10 87933145 missense variant G/A snv 0.020 1.000 2 2002 2004
dbSNP: rs1114167628
rs1114167628
5 0.925 0.080 10 87961033 stop gained -/ATATCTAG delins 0.010 1.000 1 2013 2013
dbSNP: rs868257011
rs868257011
4 0.925 0.080 10 87961042 frameshift variant TACTT/- del 0.010 1.000 1 2013 2013