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: rs752021744
rs752021744
29 0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05 0.070 1.000 7 2011 2015
dbSNP: rs752742313
rs752742313
36 0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05 0.060 0.833 6 2009 2019
dbSNP: rs1171134914
rs1171134914
1 3 138655454 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs1304149814
rs1304149814
1 3 138699042 missense variant A/C snv 4.0E-06 0.010 1.000 1 2018 2018