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: rs4657175
rs4657175
2 1.000 0.040 1 162225948 intron variant T/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs12742393
rs12742393
2 0.925 0.120 1 162254796 intron variant A/C;T snv 0.020 1.000 2 2009 2018
dbSNP: rs1858232
rs1858232
4 0.882 0.080 1 162334048 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs348624
rs348624
1 1.000 0.040 1 162365466 synonymous variant C/T snv 0.17 0.21 0.010 1.000 1 2008 2008