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: rs770519542
rs770519542
2 0.925 11 62630788 missense variant C/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs879255642
rs879255642
2 0.925 11 62631032 missense variant G/C snv 0.700 1.000 1 2016 2016
dbSNP: rs879255643
rs879255643
2 0.925 11 62626633 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs879255641
rs879255641
1 1.000 11 62629281 frameshift variant CT/- del 0.700 0