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: rs1085307138
rs1085307138
9 0.807 0.160 8 143817591 splice donor variant C/T snv 0.700 0
dbSNP: rs121918130
rs121918130
18 0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 0.700 0
dbSNP: rs765379963
rs765379963
19 0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs755001161
rs755001161
2 0.925 0.120 10 121538612 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2014 2014