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: rs776095655
rs776095655
8 0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06 0.700 1.000 3 2011 2015
dbSNP: rs1057518821
rs1057518821
5 1.000 1 42930671 frameshift variant -/C delins 0.700 0
dbSNP: rs794727870
rs794727870
3 0.925 0.160 1 42929244 missense variant G/A;T snv 0.700 0
dbSNP: rs878853161
rs878853161
7 0.851 0.240 1 42929977 frameshift variant AT/- del 0.700 0