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: rs1042114
rs1042114
6 0.807 0.120 1 28812463 missense variant G/C;T snv 0.91 0.020 1.000 2 2008 2018
dbSNP: rs2234918
rs2234918
5 0.827 0.200 1 28863085 synonymous variant C/T snv 0.59 0.50 0.020 1.000 2 2000 2008
dbSNP: rs2236861
rs2236861
3 0.882 0.080 1 28813244 intron variant G/A snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs678849
rs678849
5 0.882 0.120 1 28818676 intron variant C/T snv 0.44 0.010 1.000 1 2013 2013