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: rs121434627
rs121434627
1 1.000 0.080 19 35033550 stop gained G/A;C;T snv 1.2E-05; 4.0E-06 0.700 0
dbSNP: rs137854612
rs137854612
4 0.851 0.120 3 38560170 missense variant C/T snv 0.700 0
dbSNP: rs267607029
rs267607029
2 0.925 0.080 19 35033828 stop gained G/A snv 0.700 0
dbSNP: rs869025458
rs869025458
1 1.000 0.080 1 156115272 missense variant GC/AG mnv 0.700 0