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: rs121912706
rs121912706
5 0.851 0.200 4 113373306 missense variant C/T snv 1.0E-03 9.2E-04 0.700 1.000 1 2016 2016
dbSNP: rs12720452
rs12720452
5 0.882 0.120 3 38603758 missense variant C/T snv 2.9E-04 2.9E-04 0.700 1.000 1 2016 2016
dbSNP: rs147205617
rs147205617
2 1.000 0.080 11 123642563 missense variant C/T snv 3.1E-04 3.1E-04 0.700 1.000 1 2016 2016
dbSNP: rs150264233
rs150264233
2 1.000 0.120 3 38550661 stop gained G/A;T snv 1.3E-04 3.9E-04 0.700 1.000 1 2016 2016
dbSNP: rs200236750
rs200236750
1 1 237566672 missense variant C/T snv 4.2E-04 5.2E-04 0.700 1.000 1 2016 2016
dbSNP: rs72552291
rs72552291
2 1.000 0.080 3 32159096 missense variant C/T snv 1.4E-04 1.1E-04 0.700 1.000 1 2016 2016
dbSNP: rs730882246
rs730882246
8 0.807 0.200 14 74494329 missense variant G/A snv 0.700 0