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: rs111033260
rs111033260
7 0.790 0.200 10 54317414 stop gained G/A;T snv 2.2E-04; 4.0E-06 0.700 1.000 5 2003 2015
dbSNP: rs754391973
rs754391973
2 0.925 0.200 10 53961790 stop gained G/A;C snv 1.6E-05; 2.8E-05 0.700 1.000 1 2016 2016
dbSNP: rs202033121
rs202033121
3 0.882 0.200 10 53938872 stop gained G/A snv 2.0E-05 0.700 0
dbSNP: rs727504301
rs727504301
5 0.851 0.200 10 54090054 stop gained G/A;C snv 0.700 0