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: rs140291094
rs140291094
11 0.742 0.320 12 57244322 missense variant C/G snv 9.1E-05 3.8E-04 0.810 1.000 3 2013 2017
dbSNP: rs371720347
rs371720347
1 1.000 0.200 12 57244222 stop gained T/A;C snv 6.4E-05; 8.0E-06; 1.6E-05 0.700 1.000 1 2017 2017
dbSNP: rs773050511
rs773050511
1 1.000 0.200 12 57244577 frameshift variant AGAG/- delins 4.0E-06 1.4E-05 0.700 1.000 1 2017 2017