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: rs121917821
rs121917821
2 0.925 0.080 11 116790814 stop gained G/A snv 4.0E-06 0.710 1.000 1 2005 2005
dbSNP: rs121918393
rs121918393
6 0.851 0.120 19 44908756 missense variant C/A;T snv 1.3E-05; 9.0E-05 0.010 1.000 1 2000 2000
dbSNP: rs777046568
rs777046568
2 1.000 0.080 11 116790802 frameshift variant G/- del 6.0E-05 7.0E-06 0.010 1.000 1 2017 2017