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: rs4129267
rs4129267
13 0.807 0.200 1 154453788 intron variant C/G;T snv 0.820 0.667 3 2011 2018
dbSNP: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.040 1.000 4 2012 2017
dbSNP: rs12083537
rs12083537
4 0.882 0.200 1 154408627 intron variant A/G snv 0.22 0.020 1.000 2 2013 2016