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: rs776035233
rs776035233
5 0.882 0.120 16 67940230 missense variant C/T snv 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs779114194
rs779114194
4 0.925 0.120 16 67940017 missense variant T/C snv 1.4E-05 0.700 1.000 1 2019 2019
dbSNP: rs1057518781
rs1057518781
7 0.925 0.120 19 7527961 splice donor variant G/A;C snv 0.700 0
dbSNP: rs1057518782
rs1057518782
7 0.925 0.120 19 7526579 stop gained C/G;T snv 0.700 0
dbSNP: rs267607093
rs267607093
14 0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06 0.700 0