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: rs749465164
rs749465164
1 1.000 15 84857913 stop gained C/G;T snv 8.3E-06; 4.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs1555435531
rs1555435531
1 1.000 15 84857924 stop gained G/A snv 0.700 0
dbSNP: rs1555436118
rs1555436118
1 1.000 15 84864630 stop gained G/A snv 0.700 0
dbSNP: rs762110595
rs762110595
1 1.000 15 84862634 splice acceptor variant G/A snv 1.2E-05 2.1E-05 0.700 0