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: rs121909658
rs121909658
8 0.776 0.200 2 48983125 missense variant G/A snv 6.9E-04 5.8E-04 0.030 1.000 3 1998 2010
dbSNP: rs6166
rs6166
17 0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57 0.030 1.000 3 1998 2011
dbSNP: rs6165
rs6165
14 0.724 0.160 2 48963902 missense variant C/G;T snv 4.0E-06; 0.55 0.010 1.000 1 1998 1998