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: rs3803185
rs3803185
19 0.708 0.320 13 49630889 missense variant T/C;G snv 0.39 0.020 1.000 2 2008 2011
dbSNP: rs117251022
rs117251022
5 0.827 0.120 13 49630641 missense variant G/A;C;T snv 8.8E-05; 1.9E-03 0.010 1.000 1 2008 2008
dbSNP: rs34301344
rs34301344
22 0.689 0.400 13 49630893 stop gained G/A snv 9.7E-03 7.9E-03 0.010 1.000 1 2008 2008
dbSNP: rs755100942
rs755100942
17 0.724 0.320 13 49630894 stop gained G/A snv 4.2E-06 0.010 1.000 1 2008 2008