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: rs1309855392
rs1309855392
1 1.000 12 57471080 stop gained G/A snv 0.700 0
dbSNP: rs1565601979
rs1565601979
1 1.000 12 57470670 stop gained C/T snv 0.700 0
dbSNP: rs748321474
rs748321474
1 1.000 12 57464816 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.700 0