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: rs1171462240
rs1171462240
6 0.851 0.160 11 95849784 stop gained G/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs776757548
rs776757548
5 0.882 0.160 11 95847803 stop gained G/A;C snv 8.0E-06; 4.0E-06 0.010 1.000 1 2019 2019