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: rs1047972
rs1047972
19 0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84 0.010 1.000 1 2007 2007
dbSNP: rs2273535
rs2273535
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.010 1.000 1 2007 2007
dbSNP: rs142155101
rs142155101
3 0.925 0.120 2 214728728 missense variant C/T snv 1.7E-03 1.5E-03 0.710 1.000 1 2005 2005
dbSNP: rs587779157
rs587779157
6 0.827 0.240 2 47408486 inframe deletion GAAGTT/- delins 0.700 0